ALK2 mutation in a patient with Down's syndrome and a congenital heart defect |
Atrioventricular septal defect |
Exome sequencing |
Others |
Buccal swab |
ALK2 |
Homo sapiens |
An essential role of Bmp4 in the atrioventricular septation of the mouse heart |
Atrioventricular septal defect |
Expression profiling by RT-PCR |
Embryonic heart |
Others |
BMP4 |
Mus musculus |
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects |
Atrioventricular septal defect |
Sanger sequence |
Embryos |
Others |
COL6A1 |
Homo sapiens |
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects |
Atrioventricular septal defect |
Sanger sequence |
Embryos |
Others |
COL6A2 |
Homo sapiens |
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects |
Atrioventricular septal defect |
Sanger sequence |
Embryos |
Embryonic cardiomyocytes |
CRELD1 |
Homo sapiens |
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects |
Atrioventricular septal defect |
Sanger sequencing |
Embryos |
Embryonic cardiomyocytes |
CRELD2 |
Homo sapiens |
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects |
Atrioventricular septal defect |
Sanger sequence |
Embryos |
Others |
FBLN2 |
Homo sapiens |
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects |
Atrioventricular septal defect |
Sanger sequence |
Embryos |
Others |
FRZB |
Homo sapiens |
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects |
Atrioventricular septal defect |
Sanger sequence |
Lymphoid |
Lymphoblast |
GATA5 |
Homo sapiens |
Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study |
Atrioventricular septal defect |
SNP genotyping by SNP array |
Blood |
Cord blood |
GDF1 |
Homo sapiens |
Atrioventricular canal defect in patients with RASopathies |
Atrioventricular septal defect |
Strand conformation polymorphism analysis or de |
Blood |
Leukocytes |
PTPN11 |
Homo sapiens |
Atrioventricular canal defect in patients with RASopathies |
Atrioventricular septal defect |
Strand conformation polymorphism analysis or de |
Blood |
Leukocytes |
RAF1 |
Homo sapiens |
Atrioventricular canal defect in patients with RASopathies |
Atrioventricular septal defect |
Strand conformation polymorphism analysis or de |
Blood |
Leukocytes |
SOS1 |
Homo sapiens |
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients |
Atrioventricular septal defect |
Genome variation profiling by array |
Lymphoid |
Lymphoblast |
AUTS2 |
Homo sapiens |
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients |
Atrioventricular septal defect |
Genome variation profiling by array |
Lymphoid |
Lymphoblast |
IL12RB2 |
Homo sapiens |
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients |
Atrioventricular septal defect |
Genome variation profiling by array |
Lymphoid |
Lymphoblast |
IL1B |
Homo sapiens |
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients |
Atrioventricular septal defect |
Genome variation profiling by array |
Lymphoid |
Lymphoblast |
KIAA2022 |
Homo sapiens |
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development |
Atrioventricular septal defect |
Double-strand direct sequencing |
Blood |
Lymphoblast or fibroblast |
LEFTY A |
Homo sapiens |
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development |
Atrioventricular septal defect |
Double-strand direct sequencing |
Blood |
Lymphoblast or fibroblast |
LEFTY B |
Homo sapiens |
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms |
Atrioventricular septal defect |
Exome sequencing for analysis, sanger sequence for |
Embryos |
Others |
Dnah11 |
Mus musculus |
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms |
Atrioventricular septal defect |
Exome sequencing for analysis, sanger sequence for |
Embryos |
Others |
Mks1 |
Mus musculus |
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot |
Atrioventricular septal defect |
SNP genotyping by SNP array and double-strand dire |
Embryos |
Embryonic cardiomyocytes |
JAG1 |
Homo sapiens |
Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11 |
Atrioventricular septal defect |
Sanger sequencing |
Embryos |
Embryonic cardiomyocytes |
SHOC2 |
Homo sapiens |
Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11 |
Atrioventricular septal defect |
Sanger sequencing |
Embryos |
Others |
BRAF |
Homo sapiens |
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects |
Atrioventricular septal defect |
Exome sequencing |
Embryos |
Others |
RAR1 |
Homo sapiens |
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects |
Atrioventricular septal defect |
Exome sequencing |
Blood / Lymphoid / Salivary gland |
Whole blood/Lymphoblast/ Saliva |
MYH6 |
Homo sapiens |
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects |
Atrioventricular septal defect |
Exome sequencing |
Blood / Lymphoid / Salivary gland |
Whole blood/Lymphoblast/ Saliva |
NOTCH1 |
Homo sapiens |
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects |
Atrioventricular septal defect |
Exome sequencing |
Blood / Lymphoid / Salivary gland |
Whole blood/Lymphoblast/ Saliva |
NR1D2 |
Homo sapiens |
Down syndrome congenital heart disease: a narrowed region and a candidate gene |
Atrioventricular septal defect |
Southern blot and FISH |
Blood |
Lymphoblast or fibroblast |
DSCAM |
Homo sapiens |
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect |
Atrioventricular septal defect |
Exome sequencing for analysis, sanger sequence for |
Heart |
Others |
BMPR1a |
Homo sapiens |
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect |
Atrioventricular septal defect |
Exome sequencing for analysis, sanger sequence for |
Heart |
Others |
CEP152 |
Homo sapiens |
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect |
Atrioventricular septal defect |
Exome sequencing for analysis, sanger sequence for |
Heart |
Others |
CHD7 |
Homo sapiens |
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect |
Atrioventricular septal defect |
Exome sequencing for analysis, sanger sequence for |
Heart |
Others |
MDM4 |
Homo sapiens |
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect |
Atrioventricular septal defect |
Exome sequencing for analysis, sanger sequence for |
Heart |
Others |
NIPBL |
Homo sapiens |
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect |
Atrioventricular septal defect |
Exome sequencing for analysis, sanger sequence for |
Heart |
Others |
ZFPM2 |
Homo sapiens |
Foxf genes integrate tbx5 and hedgehog pathways in the second heart field for cardiac septation |
Atrioventricular septal defect |
ChIP-seq |
Embryos |
Embryonic cardiomyocytes |
GLI1 |
Mus musculus |
Foxf genes integrate tbx5 and hedgehog pathways in the second heart field for cardiac septation |
Atrioventricular septal defect |
ChIP-seq |
Embryos |
Embryonic cardiomyocytes |
GLI3 |
Mus musculus |
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 |
Atrioventricular septal defect |
Exome sequencing |
Lymphoid |
Lymphocytes |
GATA4 |
Homo sapiens |
Genetic abnormalities in FOXP1 are associated with congenital heart defects |
Atrioventricular septal defect |
Expression profiling by qRT-PCR and Double-strand |
Fetus |
NA |
FOXP1 |
Homo sapiens |
Genetic Variants at the rs4720169 Locus of TBX20 and the rs12921862 Locus of AXIN1 May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study |
Atrioventricular septal defect |
Genotying by qPCR |
Blood |
Venous blood |
MTHFR |
Homo sapiens |
Genetic Variants at the rs4720169 Locus of TBX20 and the rs12921862 Locus of AXIN1 May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study |
Atrioventricular septal defect |
Genotying by qPCR |
Blood |
Venous blood |
TBX20 |
Homo sapiens |
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect |
Atrioventricular septal defect |
Denaturing high-performance liquid chromatography |
Blood |
Peripheral blood |
NFATC1 |
Homo sapiens |
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect |
Atrioventricular septal defect |
Denaturing high-performance liquid chromatography |
Blood |
Peripheral blood |
TBX1 |
Homo sapiens |
Human gene copy number spectra analysis in congenital heart malformations |
Atrioventricular septal defect |
SNP genotyping by SNP array |
Blood |
Whole blood |
ELN |
Homo sapiens |
Human gene copy number spectra analysis in congenital heart malformations |
Atrioventricular septal defect |
SNP genotyping by SNP array |
Blood |
Whole blood |
FLNA |
Homo sapiens |
Human gene copy number spectra analysis in congenital heart malformations |
Atrioventricular septal defect |
SNP genotyping by SNP array |
Blood |
Whole blood |
GJA5 |
Homo sapiens |
Human gene copy number spectra analysis in congenital heart malformations |
Atrioventricular septal defect |
SNP genotyping by SNP array |
Blood |
Whole blood |
HRAS |
Homo sapiens |
Identi?cation and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations |
Atrioventricular septal defect |
PCR-based DHPLC and double-strand direct sequenci |
Lymphoid |
Lymphoblast |
NODAL |
Homo sapiens |
Identification of connexin43 (?1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE) |
Atrioventricular septal defect |
Fluorescent dideoxy termination sequencing |
Heart / Blood |
Others/Peripheral blood |
Cx43 |
Homo sapiens |
Identification of connexin43 (?1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE) |
Atrioventricular septal defect |
Fluorescent dideoxy termination sequencing |
Heart / Blood |
Others/Peripheral blood |
GJA1 |
Homo sapiens |
Identification of GATA6 sequence variants in patients with congenital heart defects |
Atrioventricular septal defect |
Exome sequencing |
Blood |
Venous blood |
GATA6 |
Homo sapiens |
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins |
Atrioventricular septal defect |
DNA microarrays |
Lymphoid |
Lymphoblast |
FOXF1 |
Homo sapiens |
Left cardiac isomerism in the Sonic hedgehog null mouse |
Atrioventricular septal defect |
Genotying by PCR |
Embryos |
Others |
ISL1 |
Mus musculus |
Left cardiac isomerism in the Sonic hedgehog null mouse |
Atrioventricular septal defect |
Genotying by PCR |
Embryos |
Others |
SHH |
Mus musculus |
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB |
Atrioventricular septal defect |
Double-strand direct sequencing |
Blood |
Lymphoblast or fibroblast |
ACVR2B |
Homo sapiens |
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways |
Atrioventricular septal defect |
DNA microarrays, qRT-PCR for validation |
Lymphoid |
Lymphoblast |
Cluster:PIGP-TTC3-DSCR3 |
Homo sapiens |
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways |
Atrioventricular septal defect |
DNA microarrays, qRT-PCR for validation |
Lymphoid |
Lymphoblast |
OFD1 |
Homo sapiens |
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways |
Atrioventricular septal defect |
DNA microarrays, qRT-PCR for validation |
Lymphoid |
Lymphoblast |
RSPH1 |
Homo sapiens |
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways |
Atrioventricular septal defect |
DNA microarrays, qRT-PCR for validation |
Lymphoid |
Lymphoblast |
TSGPA2 |
Homo sapiens |
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways |
Atrioventricular septal defect |
DNA microarrays, qRT-PCR for validation |
Lymphoid |
Lymphoblast |
TUBB2B |
Homo sapiens |
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome |
Atrioventricular septal defect |
Genomic sequencing |
Connective |
Fibroblast |
EVC |
Homo sapiens |
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome |
Atrioventricular septal defect |
Genomic sequencing |
Connective |
Fibroblast |
EVC2 |
Homo sapiens |
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies |
Atrioventricular septal defect |
Sanger sequencing |
Fetus / Blood |
Amniocytes/NA |
Acvr2 |
Homo sapiens |
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies |
Atrioventricular septal defect |
Sanger sequencing |
Fetus / Blood |
Amniocytes/NA |
Zic3 |
Homo sapiens |
Novel NKX2–5 Mutations in Diseased Heart Tissues of Patients with Cardiac Malformations |
Atrioventricular septal defect |
Double-strand direct sequencing |
Heart / Blood |
Others/NA |
Nkx2.5 |
Homo sapiens |
Rare variants in NR2F2 cause congenital heart defects in humans |
Atrioventricular septal defect |
Exome sequencing |
Blood / Salivary gland |
Venous blood/saliva |
Coup-TFII |
Homo sapiens |
Rare variants in NR2F2 cause congenital heart defects in humans |
Atrioventricular septal defect |
Exome sequencing |
Blood / Salivary gland |
Venous blood/saliva |
NR2F2 |
Homo sapiens |
TBX5 Mutations in Non-Holt-Oram Syndrome (HOS) Malformed Hearts |
Atrioventricular septal defect |
Double-strand direct sequencing |
Heart |
Others |
TBX5 |
Homo sapiens |
Two novel HAND1 mutations in Chinese patients with ventricular septal defect |
Atrioventricular septal defect |
Double-strand direct sequencing |
Blood |
Leukocytes |
HAND1 |
Homo sapiens |
Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease |
Atrioventricular septal defect |
Fluorescent dideoxy termination sequencing |
Lymphoid |
Lymphocytes |
CFC1 |
Homo sapiens |
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome |
Atrioventricular septal defect |
SNP genotyping by SNP array |
Lymphoid |
Lymphoblast |
MTHFR |
Homo sapiens |
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome |
Atrioventricular septal defect |
SNP genotyping by SNP array |
Lymphoid |
Lymphoblast |
MTR |
Homo sapiens |
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome |
Atrioventricular septal defect |
SNP genotyping by SNP array |
Lymphoid |
Lymphoblast |
MTRR |
Homo sapiens |
ABCB6 Mutations Cause Ocular Coloboma |
Anophthalmia / microphthalmia |
Exome sequencing and expression profiling by RT-PC |
Blood |
Peripheral blood |
ABCB6 |
Homo sapiens |
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm |
Anophthalmia / microphthalmia |
Exome sequencing and whole-genome sequencing |
Embryos |
Others |
ALDH1A3 |
Homo sapiens |
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia |
Anophthalmia / microphthalmia |
SNP genotyping by SNP array and DNA micrarray |
NA |
NA |
ALX1 |
Homo sapiens |
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects |
Anophthalmia / microphthalmia |
SNP genotyping by SNP array, Next generation seque |
Blood |
Peripheral blood |
ATOH7 |
Homo sapiens |
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR |
Anophthalmia / microphthalmia |
Double-strand direct sequencing |
Blood |
Peripheral blood |
BCOR |
Homo sapiens |
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR |
Anophthalmia / microphthalmia |
Expression profiling by RT-PCR |
Blood |
Peripheral blood |
BCOR |
Zebrafish |
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome |
Anophthalmia / microphthalmia |
Double-strand direct sequencing and SNP genotyping |
Blood / Others |
Peripheral blood/ buccal swab |
BMP4 |
Homo sapiens |
Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies |
Anophthalmia / microphthalmia |
Double-strand direct sequencing |
Blood |
Whole blood |
BMP7 |
Homo sapiens |
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia |
Anophthalmia / microphthalmia |
Exome sequencing and double-strand direct sequenci |
Blood |
NA |
C12orf57 |
Homo sapiens |
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing for validat |
Blood |
Leukocytes |
CHD7 |
Homo sapiens |
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds |
Anophthalmia / microphthalmia |
GWAS |
Blood |
Whole blood |
CHX10/VSX2 |
Homo sapiens |
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing for validat |
Blood |
Leukocytes |
COL4A1 |
Homo sapiens |
Microphthalmia with Linear Skin Defects Syndrome |
Anophthalmia / microphthalmia |
Exome sequencing, exome array and DNA microarray |
Blood |
Leukocytes |
COX7B |
Homo sapiens |
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia |
Anophthalmia / microphthalmia |
Sanger sequencing |
Blood |
Venous blood |
CRYBA4 |
Homo sapiens |
Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea |
Anophthalmia / microphthalmia |
Expression profiling by RT-PCR |
Connective |
Fibroblast |
DPYD |
Homo sapiens |
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly |
Anophthalmia / microphthalmia |
SNP genotyping by SNP array and exome sequencing/E |
Lymphoid / Salivary gland |
Lymphocytes/Saliva |
FAT1 |
Homo sapiens |
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 |
Anophthalmia / microphthalmia |
Exome sequencing |
Blood |
Leukocyte |
FOXE3 |
Homo sapiens |
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family |
Anophthalmia / microphthalmia |
PCR-based sequencing |
Blood |
Whole blood |
FRAS1 |
Homo sapiens |
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family |
Anophthalmia / microphthalmia |
PCR-based sequencing |
Blood |
Whole blood |
FREM2 |
Homo sapiens |
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma |
Anophthalmia / microphthalmia |
Exome sequencing and Sanger sequencing |
Embryos |
Others |
FZD5 |
Zebrafish / Homo sapiens |
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies |
Anophthalmia / microphthalmia |
Exome sequencing |
Blood |
Venous blood |
GDF3 |
Homo sapiens |
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes |
Anophthalmia / microphthalmia |
Sanger sequencing |
Blood |
NA |
GDF6 |
Homo sapiens |
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes |
Anophthalmia / microphthalmia |
Expression profiling by qPCR |
Embryo |
Others |
GDF6 |
Zebrafish |
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia |
Anophthalmia / microphthalmia |
Sanger sequencing |
Blood |
Venous blood |
GJA3 |
Homo sapiens |
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia |
Anophthalmia / microphthalmia |
Sanger sequencing |
Blood |
Venous blood |
GJA8 |
Homo sapiens |
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing |
Blood |
NA |
GJA8 |
Homo sapiens |
Microphthalmia with Linear Skin Defects Syndrome |
Anophthalmia / microphthalmia |
Exome sequencing, exome array and DNA microarray |
Blood |
Leukocytes |
HCCS |
Homo sapiens |
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery |
Anophthalmia / microphthalmia |
PCR-based sequencing |
Blood |
Peripheral blood |
HESX1 |
Homo sapiens |
MKS1 regulates ciliary INPP5E levels in Joubert syndrome |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing for validat |
Connective |
Fibroblast |
INPP5E |
Homo sapiens |
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract |
Anophthalmia / microphthalmia |
Exome sequencing and homozygosity mapping |
Blood |
Peripheral blood mononuclear cells |
IPO13 |
Zebrafish / Homo sapiens |
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations |
Anophthalmia / microphthalmia |
Exome sequencing |
NA |
NA |
MAB21L2 |
Homo sapiens |
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations |
Anophthalmia / microphthalmia |
Exome sequencing |
Embryo |
Others |
Mab21l2 |
Mus musculus |
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma |
Anophthalmia / microphthalmia |
Comparative genomic hybridization (CGH) microarray |
NA |
NA |
MAF |
Homo sapiens |
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing for validat |
Blood |
Leukocytes |
MFRP |
Homo sapiens |
Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
Anophthalmia / microphthalmia |
Sanger sequencing |
Embryo |
Others |
MITF |
Zebrafish |
NAA10 polyadenylation signal variants cause syndromic microphthalmia |
Anophthalmia / microphthalmia |
RNA-sequencing |
Blood |
Whole blood |
NAA10 |
Homo sapiens |
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing |
Blood |
NA |
NDP |
Homo sapiens |
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma |
Anophthalmia / microphthalmia |
Exome sequencing |
Blood |
NA |
NDP |
Homo sapiens |
Microphthalmia with Linear Skin Defects Syndrome |
Anophthalmia / microphthalmia |
Exome sequencing, exome array and DNA microarray |
Blood |
Leukocytes |
NDUFB11 |
Homo sapiens |
Homozygous null mutation in ODZ3 causes microphthalmia in humans |
Anophthalmia / microphthalmia |
Double-strand direct sequencing/expression profili |
Blood / Lymphoid |
NA/Lymphoblasts |
ODZ/TENM3 |
Homo sapiens |
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders |
Anophthalmia / microphthalmia |
Expression profiling by qRT-PCR |
Embryo |
Mesenchymal cells |
OLFM2 |
Homo sapiens |
Heterozygous mutations of OTX2 cause severe ocular malformations |
Anophthalmia / microphthalmia |
Double-strand direct sequencing |
Blood / Others |
Peripheral blood/Buccal swab |
OTX2 |
Homo sapiens |
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia |
Anophthalmia / microphthalmia |
Double-strand direct sequencing |
Blood |
Venous blood |
PAX2 |
Homo sapiens |
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects |
Anophthalmia / microphthalmia |
Double-strand direct sequencing |
Lymphoid / Blood |
Lymphoblast/Venous blood |
PAX6 |
Homo sapiens |
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma |
Anophthalmia / microphthalmia |
CGH arrays |
NA |
NA |
PITX2 |
Homo sapiens |
Identification of PITX3 mutations in individuals with various ocular developmental defects |
Anophthalmia / microphthalmia |
Sanger sequencing |
Blood / Salivary gland |
NA/ Saliva |
PITX3 |
Homo sapiens |
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap |
Anophthalmia / microphthalmia |
Amplicon sequencing |
Lymphoid |
Lymphocytes |
PORCN |
Homo sapiens |
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap |
Anophthalmia / microphthalmia |
Expression profiling by RT-PCR |
Blood |
Venous blood |
PORCN |
Homo sapiens |
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis |
Anophthalmia / microphthalmia |
Gentyping by PCR |
Limb / Tail |
NA |
PORCN |
Mus musculus |
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing for validat |
NA |
NA |
PQBP1 |
Homo sapiens |
Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene |
Anophthalmia / microphthalmia |
SNP genotyping by SNP array |
NA |
NA |
PRSS56 |
Homo sapiens |
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network |
Anophthalmia / microphthalmia |
High-throughput DNA sequencing |
NA |
NA |
PTCH1 |
Homo sapiens |
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network |
Anophthalmia / microphthalmia |
ChIP-seq |
Embryo |
Whole-embryo lysate |
PTCH1 |
Mus musculus |
Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation |
Anophthalmia / microphthalmia |
Expression profiling by RT-PCR |
Lung |
NA |
PXDN |
Mus musculus |
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis |
Anophthalmia / microphthalmia |
Exome sequencing and whole-genome sequencing, sang |
NA |
NA |
PXDN |
Homo sapiens |
RAB18 Deficiency |
Anophthalmia / microphthalmia |
Exome sequencing |
Blood |
Leukocytes |
RAB18 |
Homo sapiens |
Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia |
Anophthalmia / microphthalmia |
Exome sequencing |
Blood |
NA |
RARB |
Homo sapiens |
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing for validat |
Blood |
NA |
RAR? |
Homo sapiens |
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea |
Anophthalmia / microphthalmia |
Double-strand direct sequencing |
Others / Salivary gland |
Buccal swab/Saliva |
RAX |
Homo sapiens |
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease |
Anophthalmia / microphthalmia |
Sanger sequence and SNP genotyping by SNP array |
Blood / Salivary gland / Others |
NA/Saliva/ buccal swab |
RBP4 |
Homo sapiens |
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns |
Anophthalmia / microphthalmia |
Exome sequencing |
Blood |
Peripheral blood |
RBP4 |
Homo sapiens |
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes |
Anophthalmia / microphthalmia |
Exons and flanking introns sequencing |
Blood |
Leukocytes |
SALL1 |
Homo sapiens |
Mutation of SALL2 causes recessive ocular coloboma in humans and mice |
Anophthalmia / microphthalmia |
Exome sequencing and homozygosity mapping |
Blood |
NA |
SALL2 |
Homo sapiens |
Mutation of SALL2 causes recessive ocular coloboma in humans and mice |
Anophthalmia / microphthalmia |
Exome sequencing and homozygosity mapping |
Embryo |
Embryonic eyes |
SALL2 |
Mus musculus |
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum |
Anophthalmia / microphthalmia |
Amplicon sequencing |
Lymphoid |
Lymphocytes |
SALL4 |
Homo sapiens |
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia |
Anophthalmia / microphthalmia |
Double-strand direct sequencing |
Blood |
Venous blood |
SHH |
Homo sapiens |
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia |
Anophthalmia / microphthalmia |
Sanger sequencing |
Blood |
Venous blood |
SIX3 |
Homo sapiens |
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds |
Anophthalmia / microphthalmia |
Exons and flanking introns sequencing |
Blood |
Whole blood |
SIX4 |
Homo sapiens |
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation |
Anophthalmia / microphthalmia |
Sanger sequencing |
Blood |
Peripheral blood |
SIX6 |
Homo sapiens |
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation |
Anophthalmia / microphthalmia |
Sanger sequencing |
Retina |
Retinal Cell |
SIX6 |
Mus musculus |
SMCHD1 mutations associated with a rare muscular dystrophy can also case isolated arhinia and Bosma arhinia microphthalmia syndrome |
Anophthalmia / microphthalmia |
Exome sequencing and whole-genome sequencing, sang |
Blood |
NA |
SMCHD1 |
Homo sapiens |
A recurrent mosaic mutation in SMO, encoding the Hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome |
Anophthalmia / microphthalmia |
Exome sequencing |
Blood |
NA |
SMO |
Homo sapiens |
SMOC1 is essential for ocular and limb development in humans and mice |
Anophthalmia / microphthalmia |
SNP genotyping by SNP array |
Blood |
Leukocyte |
SMOC1 |
Homo sapiens |
SMOC1 is essential for ocular and limb development in humans and mice |
Anophthalmia / microphthalmia |
Gentyping by PCR |
Embryo / ear / Others |
Yolk-sac/NA/ tail biopsies |
SMOC1 |
Mus musculus |
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia |
Anophthalmia / microphthalmia |
Double-strand direct sequencing |
Blood / Others |
NA/Buccal swab |
SOX2 |
Homo sapiens |
A complex phenotype in a family with a pathogenic SOX3 missense variant |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing for validat |
Blood |
Peripheral blood |
SOX3 |
Homo sapiens |
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype |
Anophthalmia / microphthalmia |
Next-generation sequencing and SNP genotyping by S |
Lymphoid |
Lymphocytes |
STRA6 |
Homo sapiens |
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype |
Anophthalmia / microphthalmia |
CGH arrays, SNP genotyping by SNP array and bidire |
NA |
NA |
TFAP2? |
Homo sapiens |
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12 |
nanophthalmia |
Exome sequencing |
Blood / Salivary gland |
Peripheral whole blood/ Saliva |
TMEM98 |
Homo sapiens |
A male with unilateral microphthalmia reveals a role for TMX3 in eye development |
Anophthalmia / microphthalmia |
Genomic sequencing |
Lymphoid |
Lymphocytes |
TMX3 |
Homo sapiens |
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing |
Anophthalmia / microphthalmia |
Exome sequencing and sanger sequencing for validat |
Blood |
Leukocytes |
VSX1 |
Homo sapiens |
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans |
Anophthalmia / microphthalmia |
Exome sequencing |
NA |
NA |
VSX1 |
Homo sapiens |
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders |
Anophthalmia / microphthalmia |
Expression profiling by RT-PCR |
Salivary gland |
Saliva |
YAP1 |
Homo sapiens |
The association and significance of H3K27me3 and a folate metabolic gene ACat2 in neural tube defects |
Neural tube defect |
Expression profiling by qRT-PCR |
Neural |
Neural stem cells |
ACAT2 |
Mus musculus |
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Blood spots |
ADA |
Homo sapiens |
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Blood spots |
ALDH1A2 |
Homo sapiens |
Alx3-deficient mice exhibit folic acid-resistant craniofacial midline and neural tube closure defects |
Neural tube defect |
Genotyping by PCR/Expression profiling by RT-PCR |
Tail / Head |
Tail biopsies/Others |
ALX3 |
Mus musculus |
Genetic association of the glycine cleavage system genes and myelomeningocele |
Neural tube defect |
Exome sequencing and sanger sequencing |
Blood / Salivary gland |
Whole blood/Saliva |
AMT |
Homo sapiens |
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Blood spots |
ARID1A |
Homo sapiens |
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq |
Neural tube defect |
RNA-seq |
Embryo |
Embryo neural tube |
ASCL1 |
Mus musculus |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway |
Neural tube defect |
Exome sequencing and sanger sequencing for vadilat |
Blood |
Cord blood |
BHMT |
Homo sapiens |
Identification of transcripts potentially involved in neural tube closure using RNA sequencing |
Neural tube defect |
RNA-seq |
Embryo |
Whole embryo |
BMP |
Zebrafish |
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq |
Neural tube defect |
RNA-seq |
Embryo |
Embryo neural tube |
BMP2 |
Mus musculus |
Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube |
Neural tube defect |
Expression profiling by enzyme-linked immunosorben |
Fetus |
Amniotic fluid cells |
BMP4 |
Homo sapiens |
Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects |
Neural tube defect |
Genome variation profiling by polymorphism |
Blood |
NA |
BRCA1 |
Homo sapiens |
Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Blood spots |
CARM1 |
Homo sapiens |
CBP/p300 and associated transcriptional co-activators exhibit distinct expression patterns during murine craniofacial and neural tube development |
Neural tube defect |
Expression profiling by in situ hybridization |
Embryo |
Others |
CART1 |
Mus musculus |
Casp8 hypomethylation and neural tube defects in association with polycyclic aromatic hydrocarbon exposure |
Neural tube defect |
Methylation profiling by array |
Neural |
Others |
Casp8 |
Homo sapiens |
CBP/p300 and associated transcriptional co-activators exhibit distinct expression patterns during murine craniofacial and neural tube development |
Neural tube defect |
Expression profiling by in situ hybridization |
Embryo |
Others |
CBP |
Mus musculus |
Temporal expression of genes involved in folate metabolism and transport during placental development, preeclampsia and neural tube defects |
Neural tube defect |
Expression profiling by qRT-PCR |
Maternal uterine |
Placenta |
CBS |
Homo sapiens |
Genetic modifiers of folate, vitamin B-12, and homocysteine status in a cross-sectional study of the Canadian population |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Whole blood |
CD320 |
Homo sapiens |
A combination insecticide at sub-lethal dose debilitated the expression pattern of crucial signalling molecules that facilitate craniofacial patterning in domestic chick Gallus domesticus |
Neural tube defect |
Expression profiling by qRT-PCR |
Head |
Others |
CDH2 |
Chicken |
?-catenin regulates Pax3 and Cdx2 for caudal neural tube closure and elongation |
Neural tube defect |
Expression profiling by qRT-PCR |
Nerve |
Caudal neural fold |
CDX2 |
Mus musculus |
Elevated H3K79 homocysteinylation causes abnormal gene expression during neural development and subsequent neural tube defects |
Neural tube defect |
ChIP-seq and RNA-seq |
Brain |
Others |
CECR2 |
Homo sapiens |
Digenic variants of planar cell polarity genes in human neural tube defect patients |
Neural tube defect |
Next-generation sequencing and sanger sequencing f |
Blood / Connective |
Cord blood/ Umbilical cord |
CELSR1 |
Homo sapiens |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencin and sanger sequencing for validati |
Connective / Blood |
Fibroblast/Whole blood |
CELSR2 |
Homo sapiens |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway |
Neural tube defect |
Exome sequencing and sanger sequencing for vadilat |
Blood |
Cord blood |
CFAP46 |
Homo sapiens |
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect |
Neural tube defect |
Expression profiling by in situ hybridization |
Placental tissues / parental blood |
Others |
CHD2 |
Homo sapiens |
Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Blood spots |
CITED2 |
Homo sapiens |
High Glucose-Repressed CITED2 Expression Through miR-200b Triggers the Unfolded Protein Response and Endoplasmic Reticulum Stress |
Neural tube defect |
Expression profiling by qRT-PCR |
Embryo / Nerve |
Whole embryo/Neural stem cells |
CITED2 |
Mus musculus |
Expression of p53/HGF/c-met/STAT3 signal in fetuses with neural tube defects |
Neural tube defect |
Expression profiling by RT-PCR |
Fetus |
Others |
C-MET |
Homo sapiens |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencin and sanger sequencing for validati |
Connective / Blood |
Fibroblast/Whole blood |
COBL |
Homo sapiens |
Association between maternal COMT gene polymorphisms and fetal neural tube defects risk in a Chinese population |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Venous blood |
COMT |
Homo sapiens |
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2 |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Others |
CRABP1 |
Homo sapiens |
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2 |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Others |
CRABP2 |
Homo sapiens |
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect |
Neural tube defect |
CGH array, next-generation sequencing and sanger s |
Blood |
Peripheral blood cells |
CREBBP |
Homo sapiens |
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population |
Neural tube defect |
Next-generation sequencing |
Neural |
Others |
CUBN |
Homo sapiens |
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2 |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Others |
CYP26A1 |
Homo sapiens |
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2 |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Others |
CYP26B1 |
Homo sapiens |
Identification of novel rare mutations of DACT1 in human neural tube defects |
Neural tube defect |
Double strand direct sequencing |
Embryo |
Others |
DACT1 |
Homo sapiens |
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida |
Neural tube defect |
Whole genome sequencing |
Infant bloodspots |
Venous blood |
DDR |
Homo sapiens |
Association of FOLH1, DHFR, and MTHFR gene polymorphisms with susceptibility of Neural Tube Defects: A case control study from Eastern India |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Leukocytes |
DHFR |
Homo sapiens |
Fate Specification of Neural Plate Border by Canonical Wnt Signaling and Grhl3 is Crucial for Neural Tube Closure |
Neural tube defect |
DNA microarray |
Embryo |
Embryonic stem cells |
DKK1/ KREMEN1 |
Mus musculus |
Whole exome sequencing identifies novel predisposing genes in neural tube defects |
Neural tube defect |
Exome sequencing |
Saliva / blood |
Others |
DLC1 |
Homo sapiens |
Genetic modifiers of folate, vitamin B-12, and homocysteine status in a cross-sectional study of the Canadian population |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Whole blood |
DNMT2 |
Homo sapiens |
Elevated H3K79 homocysteinylation causes abnormal gene expression during neural development and subsequent neural tube defects |
Neural tube defect |
ChIP-seq and RNA-seq |
Brain |
Others |
DNMT3B |
Homo sapiens |
Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects |
Neural tube defect |
Exome sequencing |
NA |
NA |
DVL1 |
Homo sapiens |
Digenic variants of planar cell polarity genes in human neural tube defect patients |
Neural tube defect |
Next-generation sequencing and sanger sequencing f |
Blood / Connective |
Cord blood/ Umbilical cord |
DVL3 |
Homo sapiens |
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect |
Neural tube defect |
CGH array, next-generation sequencing and sanger s |
Blood |
Peripheral blood cells |
EP300 |
Homo sapiens |
Plexin-B2, but not Plexin-B1, critically modulates neuronal migration and patterning of the developing nervous system in vivo |
Neural tube defect |
Expression profiling by RT-PCR |
Brain / Embryo |
Cerebellum/Embryonic stem cells |
ERBB2 |
Mus musculus |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencin and sanger sequencing for validati |
Connective / Blood |
Fibroblast/Whole blood |
FAT4 |
Homo sapiens |
Identification of transcripts potentially involved in neural tube closure using RNA sequencing |
Neural tube defect |
RNA-seq |
Embryo |
Whole embryo |
FGF |
Zebrafish |
Comparative Study on the Differentiation of Mesenchymal Stem Cells Between Fetal and Postnatal Rat Spinal Cord Niche |
Neural tube defect |
Expression profiling by qRT-PCR |
Embryo |
Others |
FGF2 |
Mus musculus |
The effect of folic acid deficiency on FGF pathway via Brachyury regulation in neural tube defects |
Neural tube defect |
Methylation profiling by array |
Embryo |
Embryonic stem cells |
FGF8 |
Mus musculus |
The effect of folic acid deficiency on FGF pathway via Brachyury regulation in neural tube defects |
Neural tube defect |
Expression profiling by qRT-PCR |
Brain |
Others |
FGF8 |
Homo sapiens |
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development |
Neural tube defect |
Exome sequencing and sanger sequencing |
Neural |
Neural stem cells |
FGFR1 |
Homo sapiens |
Association of FOLH1, DHFR, and MTHFR gene polymorphisms with susceptibility of Neural Tube Defects: A case control study from Eastern India |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Leukocytes |
FOLH1 |
Homo sapiens |
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice |
Neural tube defect |
Expression profiling by microarray |
Skull vaults |
Others |
FOXL2 |
Mus musculus |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway |
Neural tube defect |
Exome sequencing and sanger sequencing for vadilat |
Blood |
Cord blood |
FPGS |
Homo sapiens |
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population |
Neural tube defect |
Next-generation sequencing |
Neural |
Others |
FTCD |
Homo sapiens |
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans |
Neural tube defect |
Double strand direct sequencing |
NA |
NA |
FUZZY |
Homo sapiens |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencin and sanger sequencing for validati |
Connective / Blood |
Fibroblast/Whole blood |
FZD1 |
Homo sapiens |
Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population |
Neural tube defect |
Double strand direct sequencing |
Blood |
Peripheral blood |
FZD3 |
Homo sapiens |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencin and sanger sequencing for validati |
Connective / Blood |
Fibroblast/Whole blood |
FZD6 |
Homo sapiens |
Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population |
Neural tube defect |
Double strand direct sequencing |
Blood |
Peripheral blood |
FZD6 |
Homo sapiens |
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population |
Neural tube defect |
Next-generation sequencing |
Neural |
Others |
GAMT |
Homo sapiens |
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population |
Neural tube defect |
Next-generation sequencing |
Neural |
Others |
GART |
Homo sapiens |
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects |
Neural tube defect |
ChIP-seq and RNA-seq |
Embryo |
Embryonic stem cells |
GATA4 |
Mus musculus |
Use of high-frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice |
Neural tube defect |
Genotyping by PCR |
Tail tip / limb |
Others |
GLDC |
Mus musculus |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway |
Neural tube defect |
Exome sequencing and sanger sequencing for vadilat |
Blood |
Cord blood |
GLI3 |
Homo sapiens |
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice |
Neural tube defect |
Genotyping by PCR |
Embryo |
Yolk sacs |
GRHL2 |
Mus musculus |
Fate Specification of Neural Plate Border by Canonical Wnt Signaling and Grhl3 is Crucial for Neural Tube Closure |
Neural tube defect |
DNA microarray |
Embryo |
Embryonic stem cells |
GRHL3 |
Mus musculus |
Hypomethylation of GRHL3 gene is associated with the occurrence of neural tube defects |
Neural tube defect |
Methylation profiling by array |
Fetal brain / spinal cord |
Others |
GRHL3 |
Homo sapiens |
Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects |
Neural tube defect |
Methylation profiling by bisulfite sequencing PCR |
Brain |
Others |
H19 |
Homo sapiens |
Expression of p53/HGF/c-met/STAT3 signal in fetuses with neural tube defects |
Neural tube defect |
Expression profiling by RT-PCR |
Fetus |
Others |
HGF |
Homo sapiens |
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice |
Neural tube defect |
Expression profiling by microarray |
Skull vaults |
Others |
IGF1 |
Mus musculus |
Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects |
Neural tube defect |
Methylation profiling by bisulfite sequencing PCR |
Brain |
Others |
IGF2 |
Homo sapiens |
Transgenic studies on homeobox genes in nervous system development: spina bifida in Isl1 transgenic mice |
Neural tube defect |
Expression profiling by RT-PCR |
Tail / Embryo |
Tail biopsies or embryonic yolk |
ISL1 |
Mus musculus |
Whole exome sequencing identifies novel predisposing genes in neural tube defects |
Neural tube defect |
Exome sequencing |
Saliva / blood |
Others |
ITGB1 |
Homo sapiens |
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome |
Neural tube defect |
Next-generation sequencing and sanger sequencing f |
Blood |
Peripheral blood |
JAG1 |
Homo sapiens |
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect |
Neural tube defect |
Expression profiling by in situ hybridization |
Placental tissues / parental blood |
Others |
KIF7 |
Homo sapiens |
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq |
Neural tube defect |
RNA-seq |
Embryo |
Embryo neural tube |
LHX1 |
Mus musculus |
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect |
Neural tube defect |
Expression profiling by in situ hybridization |
Placental tissues / parental blood |
Others |
LINGO1 |
Homo sapiens |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway |
Neural tube defect |
Exome sequencing and sanger sequencing for vadilat |
Blood |
Cord blood |
LRP2 |
Homo sapiens |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencin and sanger sequencing for validati |
Connective / Blood |
Fibroblast/Whole blood |
MAT1A |
Homo sapiens |
Genetic and biochemical determinants of serum concentrations of monocyte chemoattractant protein-1, a potential neural tube defect risk factor |
Neural tube defect |
Genotyping by qPCR |
Blood |
Whole blood |
MCP-1/CCL2 |
Homo sapiens |
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects |
Neural tube defect |
ChIP-seq and RNA-seq |
Embryo |
Embryonic stem cells |
MDM2 |
Mus musculus |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway |
Neural tube defect |
Exome sequencing and sanger sequencing for vadilat |
Blood |
Cord blood |
MKSI |
Homo sapiens |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway |
Neural tube defect |
Exome sequencing and sanger sequencing for vadilat |
Blood |
Cord blood |
MMAA |
Homo sapiens |
?-catenin regulates Pax3 and Cdx2 for caudal neural tube closure and elongation |
Neural tube defect |
Expression profiling by qRT-PCR |
Nerve |
Caudal neural fold |
MSX1 |
Mus musculus |
Single nucleotide polymorphisms of the maternal Msx2 gene and their association with fetal neural tube defects in Han ethnic group in Shanxi Province, China |
Neural tube defect |
Genotyping by PCR |
Blood |
Peripheral nucleated blood cells |
MSX2 |
Homo sapiens |
Association between MTHFD1 polymorphisms and neural tube defect susceptibility |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Others |
MTHFD1 |
Homo sapiens |
Association of FOLH1, DHFR, and MTHFR gene polymorphisms with susceptibility of Neural Tube Defects: A case control study from Eastern India |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Leukocytes |
MTHFR |
Homo sapiens |
Analysis of MTR and MTRR Polymorphisms for Neural Tube Defects Risk Association |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Whole blood |
MTR |
Homo sapiens |
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Blood spots |
MTR |
Homo sapiens |
Analysis of MTR and MTRR Polymorphisms for Neural Tube Defects Risk Association |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Whole blood |
MTRR |
Homo sapiens |
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects |
Neural tube defect |
ChIP-seq and RNA-seq |
Embryo |
Embryonic stem cells |
MTX |
Mus musculus |
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population |
Neural tube defect |
Next-generation sequencing |
Neural |
Others |
MUT |
Homo sapiens |
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects |
Neural tube defect |
Double strand direct sequencing |
Blood |
Others |
NCAM1 |
Homo sapiens |
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects |
Neural tube defect |
ChIP-seq and RNA-seq |
Embryo |
Embryonic stem cells |
NES |
Mus musculus |
Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects |
Neural tube defect |
Genotyping by PCR |
Tail / Connective |
Tail biopsies/ Extraembryonic membranes |
NF1 |
Mus musculus |
Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning |
Neural tube defect |
Expression profiling by qPCR |
Embryo |
Embryonic fibroblasts |
NODAL |
Mus musculus |
Identification of transcripts potentially involved in neural tube closure using RNA sequencing |
Neural tube defect |
RNA-seq |
Embryo |
Whole embryo |
NODAL |
Zebrafish |
Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs) |
Neural tube defect |
Double strand direct sequencing |
NA |
NA |
NOG |
Homo sapiens |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencin and sanger sequencing for validati |
Connective / Blood |
Fibroblast/Whole blood |
NOS2 |
Homo sapiens |
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq |
Neural tube defect |
RNA-seq |
Embryo |
Embryo neural tube |
OLIG2 |
Mus musculus |
Accuracy, discriminative properties and reliability of a human ESC-based in vitro toxicity assay to distinguish teratogens responsible for neural tube defects |
Neural tube defect |
Expression profiling by qRT-PCR |
Embryo |
Embryonic stem cell |
OTX2 |
Homo sapiens |
CBP/p300 and associated transcriptional co-activators exhibit distinct expression patterns during murine craniofacial and neural tube development |
Neural tube defect |
Expression profiling by in situ hybridization |
Embryo |
Others |
P300 |
Mus musculus |
Expression of p53/HGF/c-met/STAT3 signal in fetuses with neural tube defects |
Neural tube defect |
Expression profiling by RT-PCR |
Fetus |
Others |
P53 |
Homo sapiens |
Quantitative Measurement of PARD3 Copy Number Variations in Human Neural Tube Defects |
Neural tube defect |
Copy number variation (CNV) array and double stran |
Spinal cord |
Others |
PARD3 |
Homo sapiens |
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida |
Neural tube defect |
Double strand direct sequencing |
Blood |
Peripheral nucleated blood cells |
PAX1 |
Homo sapiens |
Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons |
Neural tube defect |
Methylation profiling by array |
Neural |
Others |
PAX3 |
Mus musculus / Homo sapiens |
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects |
Neural tube defect |
ChIP-seq and RNA-seq |
Embryo |
Embryonic stem cells |
PAX6 |
Mus musculus |
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects |
Neural tube defect |
Exome sequencing |
Embryo |
Embryonic neural tube |
PCP |
Mus musculus |
Identification of PCSK9 as a novel serum biomarker for the prenatal diagnosis of neural tube defects using iTRAQ quantitative proteomics |
Neural tube defect |
Expression profiling by ELISA and western blot |
Blood |
Serum |
PCSK9 |
Mus musculus |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencin and sanger sequencing for validati |
Connective / Blood |
Fibroblast/Whole blood |
PDGFR? |
Homo sapiens |
Plexin-B2, but not Plexin-B1, critically modulates neuronal migration and patterning of the developing nervous system in vivo |
Neural tube defect |
Expression profiling by RT-PCR |
Brain / Embryo |
Cerebellum/Embryonic stem cells |
PLXNB2 |
Mus musculus |
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects |
Neural tube defect |
Exome sequencing |
Embryo |
Embryonic neural tube |
PriCKLE1 |
Mus musculus |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencin and sanger sequencing for validati |
Connective / Blood |
Fibroblast/Whole blood |
PRICKLE4 |
Homo sapiens |
Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population |
Neural tube defect |
SNP genotyping by SNP array and methylation profil |
Brain |
Others |
PTCH1 |
Homo sapiens |
Digenic variants of planar cell polarity genes in human neural tube defect patients |
Neural tube defect |
Next-generation sequencing and sanger sequencing f |
Blood / Connective |
Cord blood/ Umbilical cord |
PTK7 |
Homo sapiens |
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida |
Neural tube defect |
Whole genome sequencing |
Infant bloodspots |
Venous blood |
RAD9B |
Homo sapiens |
Ectopic cross-talk between thyroid and retinoic acid signaling: A possible etiology for spinal neural tube defects |
Neural tube defect |
Expression profiling by ChIP assay |
Spinal cord |
Others |
RARB |
Mus musculus / Homo sapiens |
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population |
Neural tube defect |
Next-generation sequencing |
Neural |
Others |
SARDH |
Homo sapiens |
Digenic variants of planar cell polarity genes in human neural tube defect patients |
Neural tube defect |
Next-generation sequencing and sanger sequencing f |
Blood / Connective |
Cord blood/ Umbilical cord |
SCRIB |
Homo sapiens |
Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube |
Neural tube defect |
Expression profiling by enzyme-linked immunosorben |
Fetus |
Amniotic fluid cells |
SHH |
Homo sapiens |
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population |
Neural tube defect |
Next-generation sequencing |
Neural |
Others |
SHMT1 |
Homo sapiens |
Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort |
Neural tube defect |
Next-generation sequencing and sanger sequencing f |
Blood |
Others |
SHROOM2 |
Homo sapiens |
Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort |
Neural tube defect |
Next-generation sequencing and sanger sequencing f |
Blood |
Others |
SHROOM3 |
Homo sapiens |
Shroom3 functions downstream of planar cell polarity to regulate myosin II distribution and cellular organization during neural tube closure |
Neural tube defect |
Genotyping by PCR |
Embryo |
Others |
SHROOM3 |
Mus musculus |
Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts |
Neural tube defect |
SNP genotyping by SNP array |
Blood / Others |
Whole blood/buccal swab |
SLC46A1 |
Homo sapiens |
Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region |
Neural tube defect |
Allele-specific sequencing |
Blood |
Leukocytes |
SLUG |
Homo sapiens |
Elevated H3K79 homocysteinylation causes abnormal gene expression during neural development and subsequent neural tube defects |
Neural tube defect |
ChIP-seq and RNA-seq |
Brain |
Others |
SMARCA4 |
Homo sapiens |
Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube |
Neural tube defect |
Expression profiling by enzyme-linked immunosorben |
Fetus |
Amniotic fluid cells |
SOX10 |
Homo sapiens |
Isolation of Human Neural Stem Cells from the Amniotic Fluid with Diagnosed Neural Tube Defects |
Neural tube defect |
Expression profiling by qRT-PCR |
Fetus |
Amniotic fluid cells |
SOX2 |
Homo sapiens |
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects |
Neural tube defect |
CGH microarray |
Fetus |
Amniocytes |
SOX3 |
Homo sapiens |
Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube |
Neural tube defect |
Expression profiling by enzyme-linked immunosorben |
Fetus |
Amniotic fluid cells |
SOX9 |
Homo sapiens |
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development |
Neural tube defect |
Exome sequencing and sanger sequencing |
Neural |
Neural stem cells |
SP2 |
Homo sapiens |
Expression of p53/HGF/c-met/STAT3 signal in fetuses with neural tube defects |
Neural tube defect |
Expression profiling by RT-PCR |
Fetus |
Others |
STAT3 |
Homo sapiens |
An association study between SUFU gene polymorphisms and neural tube defects |
Neural tube defect |
SNP genotyping by SNP array |
Skin |
Others |
SUFU |
Homo sapiens |
?-catenin regulates Pax3 and Cdx2 for caudal neural tube closure and elongation |
Neural tube defect |
Expression profiling by qRT-PCR |
Embryo |
Caudal neural folds |
TBX6 |
Mus musculus |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway |
Neural tube defect |
Exome sequencing and sanger sequencing for vadilat |
Blood |
Cord blood |
TCN2 |
Homo sapiens |
Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice |
Neural tube defect |
RNA-seq |
Brain |
Others |
TCTN3 |
Mus musculus |
Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Blood spots |
TFAP2A |
Homo sapiens |
TGF-?s and Smads activities at the site of failed neural tube in the human embryos |
Neural tube defect |
Expression profiling by immunohistochemistry |
Fetus |
Fetal neural |
TGF?3 |
Homo sapiens |
Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning |
Neural tube defect |
Expression profiling by qPCR |
Embryo |
Embryonic fibroblasts |
TGIFs |
Mus musculus |
Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
NA |
TP53 |
Homo sapiens |
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family |
Neural tube defect |
Exome sequencing and sanger sequencing for validat |
Blood / Fetus |
Peripheral blood/Amniotic fluid cells |
TRIM36 |
Homo sapiens |
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
Neural tube defect |
Exome sequencing and sanger sequencing for validat |
Connective / Blood |
Fibroblast/Whole blood |
TXN2 |
Homo sapiens |
Association between VANGL1 gene polymorphisms and neural tube defects |
Neural tube defect |
SNP genotyping by SNP array |
Blood |
Venous blood |
VANGL1 |
Homo sapiens |
Syndecan 4 interacts genetically with Vangl2 to regulate neural tube closure and planar cell polarity |
Neural tube defect |
Genotyping by PCR |
Embryo |
Embryonic fibroblasts |
VANGL2 |
Mus musculus |
Identification of transcripts potentially involved in neural tube closure using RNA sequencing |
Neural tube defect |
RNA-seq |
Embryo |
Whole embryo |
WNT |
Zebrafish |
Shroom3 functions downstream of planar cell polarity to regulate myosin II distribution and cellular organization during neural tube closure |
Neural tube defect |
Genotyping by PCR |
Embryo |
Others |
WNT5A |
Mus musculus |
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq |
Neural tube defect |
RNA-seq |
Embryo |
Embryo neural tube |
WNT7B |
Mus musculus |
Mouse Zic1 is involved in cerebellar development |
Neural tube defect |
Genotyping by PCR and southern blot |
Embryo |
Others |
ZIC1 |
Mus musculus |
Zic2 regulates the kinetics of neurulation |
Neural tube defect |
Nucleotide sequencing |
Embryo |
Embryonic stem cells |
ZIC2 |
Mus musculus |
A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects |
Neural tube defect |
Expression profiling by southern blot |
Toes / livers |
Others |
ZIC3 |
Mus musculus |
A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects |
Neural tube defect |
Expression profiling by RT-PCR |
Brain |
Others |
ZIC3 |
Mus musculus |
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome |
Anotia / Microtia |
Exome sequencing |
Lymphoid |
Lymphocyte |
CDC45 |
Homo sapiens |
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome |
Anotia / Microtia |
Exome sequencing |
Lymphoid |
Lymphocyte |
CDC6 |
Homo sapiens |
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome |
Anotia / Microtia |
Exome sequencing |
Lymphoid |
Lymphocyte |
CDT1 |
Homo sapiens |
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients |
Anotia / Microtia |
Sanger sequencing |
Kidney / Salivary gland |
Urine/ Saliva |
EFTUD2 |
Homo sapiens |
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia |
Anotia / Microtia |
Exome sequencing |
Blood |
Peripheral blood |
FGF3 |
Homo sapiens |
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome |
Anotia / Microtia |
Exome sequencing |
Lymphoid |
Lymphocyte |
GMNN |
Homo sapiens |
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia |
Anotia / Microtia |
Exome sequencing |
Blood |
Peripheral blood |
GSC |
Homo sapiens |
Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome |
Anotia / Microtia |
RNA-seq |
Embryo |
Others |
HOXA1 |
Porcus |
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia |
Anotia / Microtia |
Exome sequencing |
Blood |
Peripheral blood |
HOXA2 |
Homo sapiens |
Mouse Hoxa2 mutations provide a model for microtia and auricle duplication |
Anotia / Microtia |
ChIP-Seq |
Embryo |
Second pharyngeal arch |
HOXA2 |
Mus musculus |
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia |
Anotia / Microtia |
Sanger sequencing |
Blood |
Peripheral blood |
HSPA9 |
Homo sapiens |
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome |
Anotia / Microtia |
Exome sequencing |
Lymphoid |
Lymphocyte |
MCM5 |
Homo sapiens |
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome |
Anotia / Microtia |
Exome sequencing |
Lymphoid |
Lymphocyte |
ORC1 |
Homo sapiens |
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome |
Anotia / Microtia |
Exome sequencing |
Lymphoid |
Lymphocyte |
ORC4 |
Homo sapiens |
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome |
Anotia / Microtia |
Exome sequencing |
Lymphoid |
Lymphocyte |
ORC6 |
Homo sapiens |
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients |
Anotia / Microtia |
Sanger sequencing |
Kidney / Salivary gland |
Urine/ Saliva |
POLR1D |
Homo sapiens |
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia |
Anotia / Microtia |
Exome sequencing |
Blood |
Peripheral blood |
PRKRA |
Homo sapiens |
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients |
Anotia / Microtia |
Sanger sequencing |
Kidney / Salivary gland |
Urine/ Saliva |
TCOF1 |
Homo sapiens |
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome |
Coarctation of the Aorta |
Exome sequencing |
Others |
Others |
ACT?2 |
Homo sapiens |
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy |
Coarctation of the Aorta |
Sanger sequencing |
Blood / Salivary gland |
Whole blood/ Saliva |
BMP2 |
Homo sapiens |
Effect of experimental hypertension on phosphoinositide hydrolysis and proto-oncogene expression in cardiovascular tissues |
Coarctation of the Aorta |
Expression profiling by hybridization |
Myocardial / aortic / mesenteric vessel |
Others |
CFOS |
Mus musculus |
Effect of experimental hypertension on phosphoinositide hydrolysis and proto-oncogene expression in cardiovascular tissues |
Coarctation of the Aorta |
Expression profiling by hybridization |
Myocardial / aortic / mesenteric vessel |
Others |
CMYC |
Mus musculus |
Combined cardiological and neurological abnormalities due to filamin A gene mutation |
Coarctation of the Aorta |
Exome sequencing |
Blood |
Leukocytes |
FLNA |
Homo sapiens |
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children |
Coarctation of the Aorta |
Genotyping by PCR |
Blood |
Peripheral blood |
GATA4 |
Homo sapiens |
Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve |
Coarctation of the Aorta |
Sanger sequencing |
Blood / Salivary gland |
Others/ Saliva |
GATA5 |
Homo sapiens |
Effect of experimental hypertension on phosphoinositide hydrolysis and proto-oncogene expression in cardiovascular tissues |
Coarctation of the Aorta |
Expression profiling by hybridization |
Myocardial / aortic / mesenteric vessel |
Others |
HRAS |
Mus musculus |
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome |
Coarctation of the Aorta |
Genome variation profiling by SSCP array |
Blood |
Leukocytes |
JAG1 |
Homo sapiens |
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children |
Coarctation of the Aorta |
Genotyping by PCR |
Blood |
Peripheral blood |
NKX2-5 |
Homo sapiens |
Variants in the NOTCH1 gene in patients with aortic coarctation |
Coarctation of the Aorta |
Exome sequencing |
Blood |
Peripheral blood |
NOTCH1 |
Homo sapiens |
PTPN11 mutations play a minor role in isolated congenital heart disease |
Coarctation of the Aorta |
DHPLC |
Blood |
Leukocytes |
PTPN11 |
Homo sapiens |
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta |
Coarctation of the Aorta |
Expression profiling by qRT-PCR and microarray |
Aortic arch |
Others |
SMAD1 |
Porcus |
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta |
Coarctation of the Aorta |
Expression profiling by qRT-PCR and microarray |
Aortic arch |
Others |
SMAD2 |
Porcus |
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome |
Coarctation of the Aorta |
Exome sequencing |
Others |
Others |
SMAD4 |
Homo sapiens |
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta |
Coarctation of the Aorta |
Expression profiling by qRT-PCR and microarray |
Aortic arch |
Others |
SMAD5 |
Porcus |
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy |
Coarctation of the Aorta |
Sanger sequencing |
Blood / Salivary gland |
Whole blood/ Saliva |
SMAD6 |
Homo sapiens |
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta |
Coarctation of the Aorta |
Expression profiling by qRT-PCR and microarray |
Aortic arch |
Others |
SMAD8 |
Porcus |
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children |
Coarctation of the Aorta |
Genotyping by PCR |
Blood |
Peripheral blood |
TBX5 |
Homo sapiens |
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta |
Coarctation of the Aorta |
Expression profiling by qRT-PCR and microarray |
Aortic arch |
Others |
TGF?2 |
Porcus |
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta |
Coarctation of the Aorta |
Expression profiling by qRT-PCR and microarray |
Aortic arch |
Others |
TGF?3 |
Porcus |
Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas |
Coarctation of the Aorta |
Exome sequencing |
Others |
Others |
WDPCP |
Homo sapiens |
Familial transposition of the great arteries caused by multiple mutations in laterality genes |
D-Transposition of the Great Arteries |
Genotyped by direct sequencing |
Others |
Others |
ACVR2B |
Homo sapiens |
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects |
D-Transposition of the Great Arteries |
CGH array |
Blood |
Blood spots |
BMPR1A |
Homo sapiens |
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle |
D-Transposition of the Great Arteries |
Genome variation profiling by SSCP array |
Blood |
Whole blood |
CFC1 |
Homo sapiens |
Familial transposition of the great arteries caused by multiple mutations in laterality genes |
D-Transposition of the Great Arteries |
Genotyped by direct sequencing |
Others |
Others |
CRELD1 |
Homo sapiens |
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects |
D-Transposition of the Great Arteries |
DHPLC and genotyping by PCR |
Blood |
Others |
CRELD2 |
Homo sapiens |
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects |
D-Transposition of the Great Arteries |
CGH array |
Blood |
Blood spots |
CRKL |
Homo sapiens |
Familial transposition of the great arteries caused by multiple mutations in laterality genes |
D-Transposition of the Great Arteries |
Genotyped by direct sequencing |
Others |
Others |
FOXH1 |
Homo sapiens |
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects |
D-Transposition of the Great Arteries |
CGH array |
Blood |
Blood spots |
GATA4 |
Homo sapiens |
Familial transposition of the great arteries caused by multiple mutations in laterality genes |
D-Transposition of the Great Arteries |
Genotyped by direct sequencing |
Others |
Others |
GDF1 |
Homo sapiens |
Familial transposition of the great arteries caused by multiple mutations in laterality genes |
D-Transposition of the Great Arteries |
Genotyped by direct sequencing |
Others |
Others |
LEFTYA |
Homo sapiens |
NKX2.5 mutations in patients with congenital heart disease |
D-Transposition of the Great Arteries |
Double-strand direct sequencing |
Blood / Lymphoid |
Whole blood/ Lymphoblast |
NKX2.5 |
Homo sapiens |
Familial transposition of the great arteries caused by multiple mutations in laterality genes |
D-Transposition of the Great Arteries |
Genotyped by direct sequencing |
Others |
Others |
NODAL |
Homo sapiens |
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects |
D-Transposition of the Great Arteries |
CGH array |
Blood |
Blood spots |
SNAI2 |
Homo sapiens |
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects |
D-Transposition of the Great Arteries |
CGH array |
Blood |
Blood spots |
ZFHX4 |
Homo sapiens |
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle |
D-Transposition of the Great Arteries |
Exome sequencing |
Blood |
Venous blood |
ZIC3 |
Homo sapiens |
Metabolic disturbances of the vitamin A pathway in human diaphragmatic hernia |
Diaphragmatic Hernia |
Expression profiling by qRT-PCR |
Others |
A549 cell line |
ALDH1A2 |
Homo sapiens |
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Others |
Others |
ARID1B |
Homo sapiens |
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome |
Diaphragmatic Hernia |
Sanger sequencing |
Blood |
Leukocytes |
COL3?1 |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
CTBP2 |
Homo sapiens |
Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosi |
Diaphragmatic Hernia |
Double-strand direct sequencing |
Others |
Others |
DLL3 |
Homo sapiens |
Homozygous DMRT2 variant associates with severe rib malformations in a newborn |
Diaphragmatic Hernia |
Exome Sequencing |
Blood |
Others |
DMRT2 |
Homo sapiens |
Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia |
Diaphragmatic Hernia |
CGH array |
Fetus |
Amniotic fluid cells |
EFNB1 |
Homo sapiens |
Perturbations to lysyl oxidase expression broadly influence the transcriptome of lung fibroblasts |
Diaphragmatic Hernia |
Expression profiling by qRT-PCR and DNA microarray |
Connective |
Fibroblast |
ELN |
Mus musculus |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
EYA1 |
Homo sapiens |
Fibrillin-1 Expression Is Decreased in the Diaphragmatic Muscle Connective Tissue of Nitrofen-Induced Congenital Diaphragmatic Hernia |
Diaphragmatic Hernia |
Expression profiling by qPCR |
Fetus |
Others |
FBN1 |
Mus musculus |
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype |
Diaphragmatic Hernia |
Exome sequencing |
Blood |
Others |
FBN1 |
Homo sapiens |
Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects |
Diaphragmatic Hernia |
RNA-seq |
Embryo |
Others |
FGFR2 |
Mus musculus |
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia |
Diaphragmatic Hernia |
Exome sequencing, sanger sequencing for validation |
Blood / Lymphoid |
Whole blood/Lymphoblast |
FRAS1/ FREM1 |
Homo sapiens |
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia |
Diaphragmatic Hernia |
Exome sequencing, sanger sequencing for validation |
Blood / Lymphoid |
Whole blood/Lymphoblast |
FREM2 |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
GATA4 |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
GATA5 |
Homo sapiens |
A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature |
Diaphragmatic Hernia |
Exome sequencing |
Blood |
Others |
GATA6 |
Homo sapiens |
Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway |
Diaphragmatic Hernia |
Expression profiling by immunohistochemistry |
Embryo |
Others |
GLI2 |
Mus musculus |
Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway |
Diaphragmatic Hernia |
Expression profiling by immunohistochemistry |
Embryo |
Others |
GLI3 |
Mus musculus |
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome |
Diaphragmatic Hernia |
Sanger sequencing |
Fetus |
Others |
GPC3 |
Homo sapiens |
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus |
Diaphragmatic Hernia |
Sanger sequencing |
Others |
Others |
HES7 |
Mus musculus |
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia |
Diaphragmatic Hernia |
Exome sequencing and sanger sequencing for validat |
Connective / Blood |
Fibroblasts/ Whole blood |
HLX |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
LBR |
Homo sapiens |
Identification of novel LFNG mutations in spondylocostal dysostosis |
Diaphragmatic Hernia |
Exome Sequencing |
Blood |
Leukocytes |
LFNG |
Homo sapiens |
Perturbations to lysyl oxidase expression broadly influence the transcriptome of lung fibroblasts |
Diaphragmatic Hernia |
Expression profiling by qRT-PCR and DNA microarray |
Connective |
Fibroblast |
LOX |
Mus musculus |
Perturbations to lysyl oxidase expression broadly influence the transcriptome of lung fibroblasts |
Diaphragmatic Hernia |
Expression profiling by qRT-PCR and DNA microarray |
Connective |
Fibroblast |
LOXL1 |
Mus musculus |
Perturbations to lysyl oxidase expression broadly influence the transcriptome of lung fibroblasts |
Diaphragmatic Hernia |
Expression profiling by qRT-PCR and DNA microarray |
Connective |
Fibroblast |
LOXL2 |
Mus musculus |
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature |
Diaphragmatic Hernia |
Sanger sequencing |
Blood |
Whole blood |
LRP2 |
Homo sapiens |
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development |
Diaphragmatic Hernia |
Double-strand direct sequencing |
Connective / Blood |
Fibroblasts/ Peripheral blood |
LTBP4 |
Homo sapiens |
Mutated MESP2 causes spondylocostal dysostosis in humans |
Diaphragmatic Hernia |
Direct nucleotide sequencing |
Blood |
Others |
MESP2 |
Homo sapiens |
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis |
Diaphragmatic Hernia |
Expression profiling by In-situ hybridization |
Fetus |
Others |
MESP2 |
Mus musculus |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
MMP14 |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
MYOD1 |
Homo sapiens |
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders |
Diaphragmatic Hernia |
Whole-genomesequencing and exome sequencing/RNA-se |
Blood / Salivary gland / Connective |
Others, Saliva/ Fibroblast |
MYRF |
Homo sapiens |
Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation |
Diaphragmatic Hernia |
DHPLC |
Blood |
Others |
NIPBL |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
NR2F2 |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
NSD1 |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
PBX1 |
Homo sapiens |
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome |
Diaphragmatic Hernia |
Exome sequencing |
Fetus / Blood |
Amniotic fluid cells/Others |
PIGN |
Homo sapiens |
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Others |
Others |
PORCN |
Homo sapiens |
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia |
Diaphragmatic Hernia |
Exome sequencing |
Blood |
Others |
RAR? |
Homo sapiens |
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects |
Diaphragmatic Hernia |
Exome Sequencing |
Blood |
Peripheral blood mononuclear cell |
RIPPLY2 |
Homo sapiens |
MiR-130a-5p/Foxa2 axis modulates fetal lung development in congenital diaphragmatic hernia by activating the Shh/Gli1 signaling pathway |
Diaphragmatic Hernia |
Expression profiling by qRT-PCR |
Lung |
Others |
SHH |
Homo sapiens |
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome |
Diaphragmatic Hernia |
Sanger sequencing |
Blood |
Others |
SLC2A10 |
Homo sapiens |
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum |
Diaphragmatic Hernia |
Next generation sequencing |
Blood |
Others |
SMC1A |
Homo sapiens |
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes |
Diaphragmatic Hernia |
Exome sequencing |
Blood |
Leukocytes |
SMC3 |
Homo sapiens |
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? |
Diaphragmatic Hernia |
Double-strand direct sequencing |
Blood |
Leukocytes |
STRA6 |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
TBX1 |
Homo sapiens |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing |
Diaphragmatic Hernia |
Whole genome sequencing, exome sequencing, and san |
Fetus |
Others |
TBX5 |
Homo sapiens |
TBX6 null variants and a common hypomorphic allele in congenital scoliosis |
Diaphragmatic Hernia |
Double-strand direct sequencing |
Others |
Others |
TBX6 |
Homo sapiens |
Altered expression of angiotensin II receptor subtypes and transforming growth factor-beta in the heart of nitrofen-induced diaphragmatic hernia in rats |
Diaphragmatic Hernia |
Expression profiling by RT-PCR |
Heart |
Others |
TGF?R2 |
Mus musculus |
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype |
Diaphragmatic Hernia |
Exome sequencing |
Blood |
Others |
TRPS1 |
Homo sapiens |
Expression of the Wilm's tumor gene WT1 during diaphragmatic development in the nitrofen model for congenital diaphragmatic hernia |
Diaphragmatic Hernia |
Expression profiling by qRT-PCR |
Embryo |
Others |
WT1 |
Mus musculus |
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia |
Diaphragmatic Hernia |
Exome sequencing and sanger sequencing |
Blood |
Whole blood |
ZFPM2 |
Homo sapiens |
BMP antagonism by Noggin is required in presumptive notochord cells for mammalian foregut morphogenesis |
Esophageal Atresia |
Expression profiling by qRT-PCR |
Embryo |
Others |
CDH1 |
Mus musculus |
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models |
Esophageal Atresia |
Next generation sequencing and sanger sequencing f |
Blood |
Whole blood |
CHD7 |
Homo sapiens |
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations |
Esophageal Atresia |
Exome sequencing, and sanger sequencing for valida |
blood / buccal smear / Kidney |
Others/ buccal cell/ urine |
EFTUD2 |
Homo sapiens |
Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing |
Esophageal Atresia |
Next generation sequencing and sanger sequencing f |
Blood |
Leukocytes |
FANCA |
Homo sapiens |
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association |
Esophageal Atresia |
Double-strand direct sequencing |
Blood |
Peripheral blood |
FANCB |
Homo sapiens |
Impaired FGF10 Signaling and Epithelial Development in Experimental Lung Hypoplasia With Esophageal Atresia |
Esophageal Atresia |
Expression profiling by qPCR |
Lung |
Others |
FGF10 |
Mus musculus |
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies |
Esophageal Atresia |
Direct automated sequencing |
Blood / Salivary gland |
Others/ Saliva |
FGF8 |
Homo sapiens |
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association |
Esophageal Atresia |
Direct automated sequencing |
Blood / Salivary gland |
Others/ Saliva |
FGFR2 |
Homo sapiens |
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association |
Esophageal Atresia |
Double-strand direct sequencing |
Blood |
Peripheral blood |
FOXF1 |
Homo sapiens |
Normal exon copy number of the GLI2 and GLI3 genes in patients with esophageal atresia |
Esophageal Atresia |
Exome sequencing |
Lymphoid |
Lymphocyte |
GLI2 |
Homo sapiens |
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models |
Esophageal Atresia |
Next generation sequencing and sanger sequencing f |
Blood |
Whole blood |
GLI3 |
Homo sapiens |
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association |
Esophageal Atresia |
Direct automated sequencing |
Blood / Salivary gland |
Others/ Saliva |
GPR35 |
Homo sapiens |
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association |
Esophageal Atresia |
Double-strand direct sequencing |
Blood |
Peripheral blood |
HOXD13 |
Homo sapiens |
Changes in serum procalcitonin, interleukin 6, interleukin 8 and C-reactive protein in neonates after surgery |
Esophageal Atresia |
Expression profiling by immunoluminometry assay |
Blood |
Leukocytes |
IL6 |
Homo sapiens |
Changes in serum procalcitonin, interleukin 6, interleukin 8 and C-reactive protein in neonates after surgery |
Esophageal Atresia |
Expression profiling by immunoluminometry assay |
Blood |
Leukocytes |
IL8 |
Homo sapiens |
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models |
Esophageal Atresia |
Next generation sequencing and sanger sequencing f |
Blood |
Whole blood |
MYCN |
Homo sapiens |
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association |
Esophageal Atresia |
Double-strand direct sequencing |
Blood |
Peripheral blood |
PCSK5 |
Homo sapiens |
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association |
Esophageal Atresia |
Direct automated sequencing |
Blood / Salivary gland |
Others/ Saliva |
PLEC |
Homo sapiens |
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models |
Esophageal Atresia |
Next generation sequencing and sanger sequencing f |
Blood |
Whole blood |
PTEN |
Homo sapiens |
Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene |
Esophageal Atresia |
CGH microarray |
Blood |
Whole blood |
SHH |
Homo sapiens |
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models |
Esophageal Atresia |
Next generation sequencing and sanger sequencing f |
Blood |
Whole blood |
SOX2 |
Homo sapiens |
Altered Tbx1 gene expression is associated with abnormal oesophageal development in the adriamycin mouse model of oesophageal atresia/tracheo-oesophageal fistula |
Esophageal Atresia |
Expression profiling by In-situ hybridization |
Embryo |
Others |
TBX1 |
Mus musculus |
Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects |
Esophageal Atresia |
Direct automated sequencing |
Lymphoid |
Lymphocyte |
ZIC3 |
Homo sapiens |
Gene variants as risk factors for gastroschisis |
Gastroschisis |
SNP genotyping by SNP array |
Blood |
Blood spots |
ADD1 |
Homo sapiens |
AEBP1 gene variants in infants with gastroschisis |
Gastroschisis |
Exome sequencing |
Blood |
Blood spots |
AEBP1 |
Homo sapiens |
Mutational analysis of the BMP-1 gene in patients with gastroschisis |
Gastroschisis |
Exome sequencing |
Blood |
Peripheral blood |
BMP1 |
Homo sapiens |
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk |
Gastroschisis |
SNP genotyping by SNP array |
Buccal smear |
Buccal cells |
CYP1A1 |
Homo sapiens |
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk |
Gastroschisis |
SNP genotyping by SNP array |
Buccal smear |
Buccal cells |
CYP1A2 |
Homo sapiens |
Effects of MTHFR c.677C>T, F2 c.20210G>A and F5 Leiden Polymorphisms in Gastroschisis |
Gastroschisis |
Genotyping by PCR |
Abdominal wall / blood |
Others/peripheral blood |
F2 |
Homo sapiens |
Effects of MTHFR c.677C>T, F2 c.20210G>A and F5 Leiden Polymorphisms in Gastroschisis |
Gastroschisis |
Genotyping by PCR |
Abdominal wall / blood |
Others/peripheral blood |
F5 |
Homo sapiens |
Gene variants as risk factors for gastroschisis |
Gastroschisis |
SNP genotyping by SNP array |
Blood |
Blood spots |
ICAM1 |
Homo sapiens |
Gene variants as risk factors for gastroschisis |
Gastroschisis |
SNP genotyping by SNP array |
Blood |
Blood spots |
ICAM4 |
Homo sapiens |
Gene variants as risk factors for gastroschisis |
Gastroschisis |
SNP genotyping by SNP array |
Blood |
Blood spots |
ICAM5 |
Homo sapiens |
Corticosteroid effect upon intestinal and hepatic interleukin profile in a gastroschisis rat model |
Gastroschisis |
Expression profiling by immunoprecipitation and EL |
Fetus |
Amniotic fluid cell |
IL6 |
Homo sapiens |
Can levels of interleukins and matrix metalloproteinases in the amniotic fluid predict postnatal bowel function in fetuses with gastroschisis? |
Gastroschisis |
Expression profiling by matrix metalloproteinase a |
Fetus |
Amniotic fluid cell |
MMP1 |
Homo sapiens |
Effects of MTHFR c.677C>T, F2 c.20210G>A and F5 Leiden Polymorphisms in Gastroschisis |
Gastroschisis |
Genotyping by PCR |
Abdominal wall / blood |
Others/peripheral blood |
MTHFR |
Homo sapiens |
Gene variants as risk factors for gastroschisis |
Gastroschisis |
SNP genotyping by SNP array |
Blood |
Blood spots |
NOS3 |
Homo sapiens |
Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis |
Gastroschisis |
SNP genotyping by SNP array |
Blood |
Blood spots |
NPPA |
Homo sapiens |
Transforming growth factor-beta 3 alters intestinal smooth muscle function: implications for gastroschisis-related intestinal dysfunction |
Gastroschisis |
Expression profiling by qRT-PCR |
Intestine |
Others |
TGF?3 |
Homo sapiens |
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation |
Microcephaly |
Exome sequencing |
Blood |
Leucocytes |
ARFGEF2 |
Homo sapiens |
Autosomal recessive primary microcephaly due to ASPM mutations: an update |
Microcephaly |
Sanger Sequencing / Next Generation Sequencing |
Blood |
Leucocytes |
ASPM |
Homo sapiens |
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities |
Microcephaly |
Exome sequencing |
Blood |
Others |
CRIPT |
Homo sapiens |
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures |
Microcephaly |
Exome sequencing |
Blood |
Leucocytes |
DIAPH1 |
Homo sapiens |
Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON |
Microcephaly |
Sanger Sequencing |
Blood |
Peripheral Blood |
DONSON |
Homo sapiens |
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features |
Microcephaly |
Exome sequencing |
Blood |
Peripheral Blood |
DYNC1I2 |
Homo sapiens |
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia |
Microcephaly |
Exome sequencing |
Blood |
Leucocytes |
GPT2 |
Homo sapiens |
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder |
Microcephaly |
Sanger Sequencing |
Blood |
Peripheral blood |
IER3IP1 |
Homo sapiens |
KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability |
Microcephaly |
Chromosome microarray |
Blood |
Leucocytes |
KIF11 |
Homo sapiens |
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features |
Microcephaly |
NA |
Blood |
Peripheral blood |
MBD5 |
Homo sapiens |
Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review |
Microcephaly |
Sanger Sequencing |
Blood |
Peripheral blood |
NDE1 |
Homo sapiens |
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review |
Microcephaly |
Sanger Sequencing |
Blood |
Peripheral blood mononuclear cells |
NHEJ1 |
Homo sapiens |
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis |
Microcephaly |
Exome sequencing |
Blood |
Peripheral blood |
PHC1 |
Homo sapiens |
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations |
Microcephaly |
Next Generation Sequencing / Exome sequencing |
Blood |
Leucocytes |
PNKP |
Homo sapiens |
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1 |
Microcephaly |
Bidirectional sequencing |
Blood |
Peripheral blood |
RBBP8 |
Homo sapiens |
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly |
Microcephaly |
Exome sequencing |
Blood |
Others |
RNU4ATAC |
Homo sapiens |
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder |
Microcephaly |
Exome sequencing |
Blood |
Peripheral Blood |
SLC1A4 |
Homo sapiens |
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly |
Microcephaly |
Exome sequencing |
Blood |
Others |
TRAPPC9 |
Homo sapiens |
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy |
Microcephaly |
Sanger Sequencing |
Blood |
Others |
TRMT10A |
Homo sapiens |
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant |
Microcephaly |
Sanger Sequencing |
Blood |
Others |
TUBA1A |
Homo sapiens |
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature |
Microcephaly |
Exome sequencing |
Blood |
Peripheral blood |
WDR62 |
Homo sapiens |
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation |
Microcephaly |
Exome sequencing |
Blood / lymphoid |
Whole blood/ lymphoblast |
TRIP13 |
Homo sapiens |
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly |
Microcephaly |
Exome sequencing |
Connective |
Fibroblast |
ANKLE2 |
Homo sapiens |
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies |
Microcephaly |
Exome sequencing |
Connective |
Fibroblast |
ARNT2 |
Homo sapiens |
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly |
Microcephaly |
Sanger Sequencing / Exome sequencing |
Connective |
Fibroblast |
ASNS |
Homo sapiens |
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy |
Microcephaly |
Exome sequencing |
Connective |
Fibroblast |
PLK4 |
Homo sapiens |
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy |
Microcephaly |
Exome sequencing |
Connective |
Fibroblast |
PYCR2 |
Homo sapiens |
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome |
Microcephaly |
Expression profiling by immunofluorescence |
Connective |
Fibroblast |
SLC9A6 |
Homo sapiens |
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features |
Microcephaly |
Exome sequencing |
Connective |
Fibroblast |
TRAPPC6B |
Homo sapiens |
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy |
Microcephaly |
Exome sequencing |
Connective / lymphoid |
Fibroblast/ lymphoblast |
TBCD |
Homo sapiens |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features |
Microcephaly |
Exome sequencing |
Embryo |
Embryonic stem cells |
BPTF |
Zebrafish |
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination |
Microcephaly |
Expression profiling by immunofluorescence |
Gonadal |
Testis |
CEP63 |
Mus musculus |
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation |
Microcephaly |
Exome sequencing |
Lymphoid |
Lymphocytes |
KATNB1 |
Homo sapiens |
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis |
Microcephaly |
Exome sequencing |
Lymphoid |
Lymphocytes |
KIF14 |
Homo sapiens |
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability |
Microcephaly |
Exome sequencing |
Lymphoid |
Lymphoblast |
PPP1R15B |
Homo sapiens |
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly |
Microcephaly |
Exome sequencing |
Lymphoid |
Lymphoblastoid |
PUS7 |
Homo sapiens |
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome |
Microcephaly |
Exome sequencing |
Lymphoid |
Lymphoblastoid |
STAMBP |
Homo sapiens |
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability |
Microcephaly |
Exome sequencing |
Lymphoid |
Lymphocytes |
XRCC4 |
Homo sapiens |
Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse |
Microcephaly |
Sanger Sequencing / RNA Sequencing |
Mouse tails / yolk sacs |
Blastocysts |
Eftud2 |
Mus musculus |
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy |
Microcephaly |
Exome sequencing |
Others |
Human embryonic kidney (HEK-293) cells |
CASK |
Homo sapiens |
A new association between CDK5RAP2 microcephaly and congenital cataracts |
Microcephaly |
Sanger Sequencing / Next Generation Sequencing / |
Others |
Others |
CDK5RAP2 |
Homo sapiens |
D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly |
Microcephaly |
Sanger Sequencing / DNA microarray |
Others |
Cancer cell lines |
D40 |
Homo sapiens |
D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly |
Microcephaly |
Sanger Sequencing / DNA microarray |
Others |
Cancer cell lines |
KNL1 |
Homo sapiens |
D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly |
Microcephaly |
Sanger Sequencing / DNA microarray |
Others |
Cancer cell lines |
CASC5 |
Homo sapiens |
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination |
Microcephaly |
Sanger Sequencing / Exome sequencing |
Others |
HEK293T |
MFSD2A |
Homo sapiens |
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells |
Microcephaly |
Exome sequencing |
Others |
Others |
Pqbp1 |
Mus musculus |
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42 |
Microcephaly |
Exome sequencing / Sanger Sequencing |
Others |
HEK293T |
RTTN |
Homo sapiens |
Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles |
Microcephaly |
Genomic DNA Sequencing |
Others |
HEK293T |
STIL |
Homo sapiens |
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly |
Microcephaly |
Exome sequencing |
Skin |
Keratinocyte cell line |
CDK6 |
Homo sapiens |
A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report |
Microcephaly |
Sanger Sequencing |
Skin |
Others |
NCAPD2 |
Homo sapiens |
Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly |
Microcephaly |
Exome sequencing |
Skin / blood |
Others/ Leucocytes |
SASS6 |
Homo sapiens |
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly |
Microcephaly |
RNA-Seq |
Tails for mouse / embryo for human |
Others/ Yolk |
MCPH1 |
Mus musculus / Homo sapiens |
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly |
Microcephaly |
RNA-Seq |
Tails for mouse / embryo for human |
Others/ Yolk |
GRP75 |
Mus musculus / Homo sapiens |
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani famil |
Microcephaly |
Sanger Sequencing / Exome sequencing |
Transfected HEK293T |
HEK293T |
CEP135 |
Homo sapiens |
Genotype-phenotype Correlation and Identification of Two Novel SRD5A2 Mutations in 33 Chinese Patients With Hypospadias |
Hypospadias |
Sanger sequencing |
Blood |
Peripheral blood |
AR |
Homo sapiens |
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism |
Hypospadias |
Sanger sequencing |
Lymphoid |
Lymphocytes |
AR |
Canis (Dog) |
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development |
Hypospadias |
Expression profiling by SNP array |
Blood |
Blood spots |
BMP7 |
Homo sapiens |
Molecular Basis of Non-Syndromic Hypospadias: Systematic Mutation Screening and Genome-Wide Copy-Number Analysis of 62 Patients |
Hypospadias |
Sanger sequencing |
Others |
Others |
BNC2 |
Homo sapiens |
Molecular Basis of Non-Syndromic Hypospadias: Systematic Mutation Screening and Genome-Wide Copy-Number Analysis of 62 Patients |
Hypospadias |
Sanger sequencing |
Others |
Others |
BNC2 |
Homo sapiens |
A Novel Homozygous Mutation in CYP11A1 Gene Is Associated With Late-Onset Adrenal Insufficiency and Hypospadias in a 46,XY Patient |
Hypospadias |
Direct automated sequencing |
Blood |
Leucocytes |
CYP11A1 |
Homo sapiens |
Interaction Between CYP1A1/CYP17A1 Polymorphisms and Parental Risk Factors in the Risk of Hypospadias in a Chinese Population |
Hypospadias |
Expression profiling by SNP array |
Epithelial tissue / Salivary gland |
Oral epithelial cells/ saliva |
CYP17A1 |
Homo sapiens |
Interaction Between CYP1A1/CYP17A1 Polymorphisms and Parental Risk Factors in the Risk of Hypospadias in a Chinese Population |
Hypospadias |
Expression profiling by SNP array |
Epithelial tissue / Salivary gland |
Oral epithelial cells/ saliva |
CYP1A1 |
Homo sapiens |
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development |
Hypospadias |
Expression profiling by SNP array |
Blood |
Blood spots |
FGF10 |
Homo sapiens |
FGFR2, FGF8, FGF10 and BMP7 as Candidate Genes for Hypospadias |
Hypospadias |
Double-strand direct sequencing |
Blood |
Others |
FGF8 |
Homo sapiens |
FGFR2, FGF8, FGF10 and BMP7 as Candidate Genes for Hypospadias |
Hypospadias |
Double-strand direct sequencing |
Blood |
Others |
FGFR2 |
Homo sapiens |
Familial Forms of Disorders of Sex Development May Be Common if Infertility Is Considered a Comorbidity |
Hypospadias |
Genomic sequencing |
Blood |
Leucocytes |
GATA4 |
Homo sapiens |
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development |
Hypospadias |
Expression profiling by SNP array |
Blood |
Blood spots |
GLI |
Homo sapiens |
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias |
Hypospadias |
Direct automated sequencing |
Blood |
Leucocytes |
HOXA13 |
Homo sapiens |
Association of Hypospadias With Hypoplastic Synpolydactyly and Role of HOXD13 Gene Mutations |
Hypospadias |
Cycle sequencing |
Lymphoid |
Lymphocytes |
HOXD13 |
Homo sapiens |
Genotype-phenotype Correlation and Identification of Two Novel SRD5A2 Mutations in 33 Chinese Patients With Hypospadias |
Hypospadias |
Sanger sequencing |
Blood |
Peripheral blood |
HSD17B3 |
Homo sapiens |
The Valine Allele of the V89L Polymorphism in the 5-alpha-reductase Gene Confers a Reduced Risk for Hypospadias |
Hypospadias |
Double-strand direct sequencing |
Blood / Skin |
Peripheral blood/ penile skin |
HSD17B3 |
Homo sapiens |
Identification by array-Comparative Genomic Hybridization (array-CGH) of a Large Deletion of Luteinizing Hormone Receptor Gene Combined With a Missense Mutation in a Patient Diagnosed With a 46,XY Disorder of Sex Development and Application to Prenatal Diagnosis |
Hypospadias |
Expression profiling by CGH and SNP array |
Blood |
Peripheral blood |
LHCGR |
Homo sapiens |
Association of MAMLD1 Single-Nucleotide Polymorphisms With Hypospadias in Chinese Han Population |
Hypospadias |
Expression profiling by SNP array |
Blood / Skin |
Peripheral blood/ foreskin |
MAMLD1 |
Homo sapiens |
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism |
Hypospadias |
Sanger sequencing |
Lymphoid |
Lymphocytes |
MAMLD1 |
Canis (Dog) |
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome |
Hypospadias |
Sanger sequencing |
Lymphoid / Salivary gland |
Lymphocytes/ Saliva |
MID1 |
Homo sapiens |
Recurrent Intragenic Duplication Within the NR5A1 Gene and Severe Proximal Hypospadias |
Hypospadias |
Sanger sequencing |
Blood |
Whole blood |
NR5A1 |
Homo sapiens |
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development |
Hypospadias |
Expression profiling by SNP array |
Blood |
Blood spots |
SHH |
Homo sapiens |
MiR-145-modulated SOX9-mediated Hypospadias Through Acting on Mitogen-Activated Protein Kinase Signaling Pathway |
Hypospadias |
Expression profiling by chip analysis |
Hypospadias / preputial tissues |
Spermatogonial stem cells |
SOX9 |
Homo sapiens |
Mutations in SPECC1L, Encoding Sperm Antigen With Calponin Homology and Coiled-Coil Domains 1-like, Are Found in Some Cases of Autosomal Dominant Opitz G/BBB Syndrome |
Hypospadias |
Exome sequencing |
Lymphoid |
Lymphocytes |
SPECC1L |
Homo sapiens |
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism |
Hypospadias |
Sanger sequencing |
Lymphoid |
Lymphocytes |
SRD5A2 |
Canis (Dog) |
Genotype-phenotype Correlation and Identification of Two Novel SRD5A2 Mutations in 33 Chinese Patients With Hypospadias |
Hypospadias |
Sanger sequencing |
Blood |
Peripheral blood |
SRD5?2 |
Homo sapiens |
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism |
Hypospadias |
Sanger sequencing |
Lymphoid |
Lymphocytes |
SRY |
Canis (Dog) |
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development |
Hypospadias |
Expression profiling by SNP array |
Blood |
Blood spots |
WT1 |
Homo sapiens |
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias |
Hypospadias |
Direct automated sequencing |
Blood |
Leucocytes |
WTAP |
Homo sapiens |
Elsahy-Waters Syndrome Is Caused by Biallelic Mutations in CDH11 |
Hypospadias |
Exome sequencing |
Blood |
Venous blood |
CHD11 |
Homo sapiens |
Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated With Ambiguous Genitalia |
Hypospadias |
Whole genome sequencing |
Lymphoid |
Lymphocytes |
NR0B1 |
Homo sapiens |
The Role of Genetic Variation in DGKK on Moderate and Severe Hypospadias |
Hypospadias |
Expression profiling by SNP array |
Preputial tissues |
Others |
DGKK |
Homo sapiens |
A Genome-Wide Association Study of Cleft Lip With and Without Cleft Palate Identifies Risk Variants Near MAFB and ABCA4 |
Cleft Lip |
GWAS |
Others |
Others |
MAFB |
Homo sapiens |
A Genome-Wide Association Study of Cleft Lip With and Without Cleft Palate Identifies Risk Variants Near MAFB and ABCA4 |
Cleft Lip |
GWAS |
Others |
Others |
ABCA4 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
KIF7 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
TCEB3 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
SPRY1 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
SHH |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
TBX10 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
MSX2 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
PRSS35 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
WNT11 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
DVL2 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
KIF7 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
JAG2 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
AXIN2 |
Homo sapiens |
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
PAX9 |
Homo sapiens |
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals |
Cleft Lip |
GWAS |
Others |
Others |
GTHL3 |
Homo sapiens |
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals |
Cleft Lip |
GWAS |
Others |
Others |
ARHGAP29 |
Homo sapiens |
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals |
Cleft Lip |
GWAS |
Others |
Others |
CAPSL |
Homo sapiens |
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals |
Cleft Lip |
GWAS |
Others |
Others |
SHROOM3 |
Homo sapiens |
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals |
Cleft Lip |
GWAS |
Others |
Others |
SKP2 |
Homo sapiens |
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals |
Cleft Lip |
GWAS |
Others |
Others |
DCAF4L2 |
Homo sapiens |
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals |
Cleft Lip |
GWAS |
Others |
Others |
FOXE1 |
Homo sapiens |
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals |
Cleft Lip |
GWAS |
Others |
Others |
DCAF4L2 |
Homo sapiens |
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals |
Cleft Lip |
GWAS |
Others |
Others |
FAM49A |
Homo sapiens |
Analysis of the HapMap Data on SNPs in SUMO1 and Association Study of rs7599810 in Trios With Non-Syndromic Cleft Lip With or Without Cleft Palate |
Cleft Lip |
SNP genotyping by SNP array |
Blood |
Peripheral Blood |
SUMO1 |
Homo sapiens |
Apert Syndrome Results From Localized Mutations of FGFR2 and Is Allelic With Crouzon Syndrome |
Cleft Lip |
Expression profiling by RT-PCR |
Blood |
Venous Blood |
FGFR2 |
Homo sapiens |
Association Between TGFB3 and Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chilean Population |
Cleft Lip |
SNP genotyping by SNP array |
Lymphoid |
Peripheral Blood Lymphocytes |
TGFB3 |
Homo sapiens |
Association of MSX1 c.*6C > T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients |
Cleft Lip |
Double strand direct sequencing |
Blood |
Cord Blood |
MSX1 |
Homo sapiens |
Association of the WNT3 Polymorphisms and Non-Syndromic Cleft Lip With or Without Cleft Palate: Evidence From a Meta-Analysis |
Cleft Lip |
NO |
Others |
Others |
WNT3 |
Homo sapiens |
Cleft lip/palate and CDH1/E? cadherin mutations in families with hereditary diffuse gastric cancer |
Cleft Lip |
Expression profiling by RT-PCR |
Blood |
Peripheral Blood |
CDH1 |
Homo sapiens |
Clinical and Genetic Characterization of Frontorhiny: Report of 3 Novel Cases and Discussion of the Surgical Management |
Cleft Lip |
Molecular genetic analysis |
Lymphoid |
Lymphocyte |
ALX3 |
Homo sapiens |
Deletion of KDM6A, a Histone Demethylase Interacting With MLL2, in Three Patients With Kabuki Syndrome |
Cleft Lip |
Sanger sequencing, array CGH analysis |
Others |
Others |
KDM6A |
Homo sapiens |
DLX4 Is Associated With Orofacial Clefting and Abnormal Jaw Development |
Cleft Lip |
Sanger sequencing |
Blood |
Venous Blood |
DLX4 |
Homo sapiens |
Effects of Phenytoin on Satb2 and Hoxa2 Gene Expressions in Mouse Embryonic Craniofacial Tissue |
Cleft Lip |
Expression profiling by RT-PCR |
Brain |
Cerebral Cortex |
Hoxa2 |
Mus musculus |
Effects of Phenytoin on Satb2 and Hoxa2 Gene Expressions in Mouse Embryonic Craniofacial Tissue |
Cleft Lip |
Expression profiling by RT-PCR |
Brain |
Cerebral Cortex |
Satb2 |
Mus musculus |
Exploring the Interaction Between FGF Genes and T-box Genes Among Chinese Nonsyndromic Cleft Lip With or Without Cleft Palate Case-Parent Trios |
Cleft Lip |
GWAS,SNP genotyping by SNP array |
Blood / Salivary Gland |
Whole Blood?Saliva |
FGF10 |
Homo sapiens |
Exploring the Interaction Between FGF Genes and T-box Genes Among Chinese Nonsyndromic Cleft Lip With or Without Cleft Palate Case-Parent Trios |
Cleft Lip |
GWAS,SNP genotyping by SNP array |
Blood / Salivary Gland |
Whole Blood?Saliva |
TBX5 |
Homo sapiens |
Exploring the Interaction Between FGF Genes and T-box Genes Among Chinese Nonsyndromic Cleft Lip With or Without Cleft Palate Case-Parent Trios |
Cleft Lip |
GWAS,SNP genotyping by SNP array |
Blood / Salivary Gland |
Whole Blood?Saliva |
FGFR2 |
Homo sapiens |
Gene-gene Interaction Between MSX1 and TP63 in Asian Case-Parent Trios With Nonsyndromic Cleft Lip With or Without Cleft Palate |
Cleft Lip |
SNP genotyping by SNP array |
Blood |
Peripheral Blood |
MSX1 |
Homo sapiens |
Genetic Risk Factors for Orofacial Clefts in Central Africans and Southeast Asians |
Cleft Lip |
GWAS |
Blood |
Whole Blood |
VAX1 |
Homo sapiens |
Genome-wide Analyses of Non-Syndromic Cleft Lip With Palate Identify 14 Novel Loci and Genetic Heterogeneity |
Cleft Lip |
GWAS,Genome variation profiling by SNP array |
Blood |
Venous Blood |
FGFR1 |
Homo sapiens |
Hay– Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 |
Cleft Lip |
Double strand direct sequencing |
Maternal uterine |
Placenta |
TP63 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
PAX7 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
ARHGAP29 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
IRF6 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
VAX1 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
NTN1 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
NOG |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
MAFB |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
FOXE1 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
MSX1 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
BMP4 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
FGFR2 |
Homo sapiens |
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing |
Cleft Lip |
GWAS,genome-wide linkage |
Others |
Others |
PTCH1 |
Homo sapiens |
Investigation of Genetic Factors Underlying Typical Orofacial Clefts: Mutational Screening and Copy Number Variation |
Cleft Lip |
SNP genotyping by SNP array |
Others |
Others |
FGF8 |
Homo sapiens |
Loss-of-Function GRHL3 Variants Detected in African Patients With Isolated Cleft Palate |
Cleft Lip |
Sanger Sequencing |
Salivary Gland |
Saliva |
GRHL3 |
Homo sapiens |
Loss-of-function Mutations in FGFR1 Cause Autosomal Dominant Kallmann Syndrome |
Cleft Lip |
RNA-seq |
Others |
Others |
FGFR1 |
Homo sapiens |
Loss-of-function Mutations in the Human GLI2 Gene Are Associated With Pituitary Anomalies and Holoprosencephaly-Like Features |
Cleft Lip |
single-strand conformational polymorphism analysis |
Others |
Others |
GLI2 |
Homo sapiens |
Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate |
Cleft Lip |
Direct sequencing of PCR |
Blood |
Whole Blood |
PVRL 1 |
Homo sapiens |
Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate |
Cleft Lip |
Direct sequencing of PCR |
Blood |
Whole Blood |
CLPTM1 |
Homo sapiens |
Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome |
Cleft Lip |
DNA sequencing analysis |
Others |
Others |
RIPK4 |
Homo sapiens |
Mutations in SPECC1L, Encoding Sperm Antigen With Calponin Homology and Coiled-Coil Domains 1-like, Are Found in Some Cases of Autosomal Dominant Opitz G/BBB Syndrome |
Cleft Lip |
SNP genome-wide microarray,whole exome sequencing |
Lymphoid |
Peripheral-Blood Lymphocytes |
SPECC1L |
Homo sapiens |
Mutations in TGIF Cause Holoprosencephaly and Link NODAL Signalling to Human Neural Axis Determination |
Cleft Lip |
mutational analysis |
Others |
Others |
TGIF |
Homo sapiens |
Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome |
Cleft Lip |
Genome variation profiling by SNP array |
Others |
Others |
CHRNG |
Homo sapiens |
Novel TBX22 Mutations in Chinese Nonsyndromic Cleft Lip/Palate Families |
Cleft Lip |
PCR genotyping |
Blood |
Whole Blood |
TBX22 |
Homo sapiens |
PAX9 and TGFB3 Are Linked to Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate in the Japanese: Population-Based and Family-Based Candidate Gene Analyses |
Cleft Lip |
Double strand direct sequencing |
Blood |
Whole Blood |
PAX9 |
Homo sapiens |
PAX9 and TGFB3 Are Linked to Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate in the Japanese: Population-Based and Family-Based Candidate Gene Analyses |
Cleft Lip |
Double strand direct sequencing |
Blood |
Whole Blood |
TGFB3 |
Homo sapiens |
Screening of Mutations in the PHF8 Gene and Identification of a Novel Mutation in a Finnish Family With XLMR and Cleft Lip/Cleft Palate |
Cleft Lip |
Double strand direct sequencing |
Blood |
Peripheral Blood |
PHF8 |
Homo sapiens |
Short Rib-Polydactyly Syndrome Type II (Majewski): Prenatal Diagnosis, Perinatal Imaging Findings and Molecular Analysis of the NEK1 Gene |
Cleft Lip |
Molecular analysis |
Fetus |
Amniocytes |
NEK1 |
Homo sapiens |
TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome |
Cleft Lip |
GWAS |
Others |
Others |
TFAP2A |
Homo sapiens |
Two Novel Genes TOX3 and COL21A1 in Large Extended Malay Families With Nonsyndromic Cleft Lip and/or Palate |
Cleft Lip |
GWAS |
Blood |
Heparinized Peripheral Blood |
TOX3 |
Homo sapiens |
Two Novel Genes TOX3 and COL21A1 in Large Extended Malay Families With Nonsyndromic Cleft Lip and/or Palate |
Cleft Lip |
GWAS |
Blood |
Heparinized Peripheral Blood |
COL21A1 |
Homo sapiens |
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome |
Cleft Lip |
Sanger sequencing |
Salivary Gland / Blood |
Saliva,Blood |
MID1 |
Homo sapiens |
Variation in IRF6 contributes to nonsyndromic cleft lip and palate |
Cleft Lip |
Double strand direct sequencing |
Blood |
Whole Blood |
IRF6 |
Homo sapiens |
VAX1 Gene Associated Non-Syndromic Cleft Lip With or Without Palate in Western Han Chinese |
Cleft Lip |
SNPscan method |
Blood |
Venous Blood |
VAX1 |
Homo sapiens |
Mutations in PITX2 may Contribute to Cases of Omphalocele and VATER-Like Syndromes |
Omphalocele |
Double strand direct sequencing |
Blood |
Blood Spot |
PITX2 |
Homo sapiens |
Folate and Vitamin B12-related Genes and Risk for Omphalocele |
Omphalocele |
SNP genotyping by SNP array |
Blood |
Dried Blood Spot Punches |
MTHFR |
Homo sapiens |
Folate and Vitamin B12-related Genes and Risk for Omphalocele |
Omphalocele |
SNP genotyping by SNP array |
Blood |
Dried Blood Spot Punches |
BHMT |
Homo sapiens |
Folate and Vitamin B12-related Genes and Risk for Omphalocele |
Omphalocele |
SNP genotyping by SNP array |
Blood |
Dried Blood Spot Punches |
TCblR |
Homo sapiens |
Folate and Vitamin B12-related Genes and Risk for Omphalocele |
Omphalocele |
SNP genotyping by SNP array |
Blood |
Dried Blood Spot Punches |
TCN2 |
Homo sapiens |
Mice Doubly Deficient in Six4 and Six5 Show Ventral Body Wall Defects Reproducing Human Omphalocele |
Omphalocele |
Double strand direct sequencing |
Embryo |
Embryonic Stem Cells |
Six4 |
Mus musculus |
Mice Doubly Deficient in Six4 and Six5 Show Ventral Body Wall Defects Reproducing Human Omphalocele |
Omphalocele |
Double strand direct sequencing |
Embryo |
Embryonic Stem Cells |
Six5 |
Mus musculus |
Occurrence of Synpolydactyly and Omphalocele in a Fetus With a HOXD13 Mutation |
Omphalocele |
Sanger sequencing |
Fetus |
Amniotic Fluid Cells |
HOXD13 |
Homo sapiens |
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies |
Omphalocele |
DNA microarray |
Connective |
Fibroblasts |
NOX5 |
Homo sapiens |
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies |
Omphalocele |
DNA microarray |
Connective |
Fibroblasts |
EWSAT1 |
Homo sapiens |
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies |
Omphalocele |
DNA microarray |
Connective |
Fibroblasts |
GLCE |
Homo sapiens |
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies |
Omphalocele |
DNA microarray |
Connective |
Fibroblasts |
PAQR5 |
Homo sapiens |
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies |
Omphalocele |
DNA microarray |
Connective |
Fibroblasts |
KIF23 |
Homo sapiens |
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies |
Omphalocele |
DNA microarray |
Connective |
Fibroblasts |
RPLP1 |
Homo sapiens |
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies |
Omphalocele |
DNA microarray |
Connective |
Fibroblasts |
DRAIC |
Homo sapiens |
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies |
Omphalocele |
DNA microarray |
Connective |
Fibroblasts |
PCAT29 |
Homo sapiens |
GAD65/GAD67 Double Knockout Mice Exhibit Intermediate Severity in Both Cleft Palate and Omphalocele Compared With GAD67 Knockout and VGAT Knockout Mice |
Omphalocele |
PCR genotyping |
Tail |
Others |
GAD67 |
Mus musculus |
GAD65/GAD67 Double Knockout Mice Exhibit Intermediate Severity in Both Cleft Palate and Omphalocele Compared With GAD68 Knockout and VGAT Knockout Mice |
Omphalocele |
PCR genotyping |
Tail |
Others |
GAD65 |
Mus musculus |
GAD65/GAD67 Double Knockout Mice Exhibit Intermediate Severity in Both Cleft Palate and Omphalocele Compared With GAD69 Knockout and VGAT Knockout Mice |
Omphalocele |
PCR genotyping |
Tail |
Others |
VGAT |
Mus musculus |
Msx1 and Msx2 Gene Expression Is Downregulated in the Cadmium-Induced Omphalocele in the Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
Msx1 |
Pullum |
Msx1 and Msx2 Gene Expression Is Downregulated in the Cadmium-Induced Omphalocele in the Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
Msx2 |
Pullum |
Eya1 and Eya2 Gene Expression Is Down-Regulated During Somitic Myogenesis in the Cadmium-Induced Omphalocele Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
Eyal1 |
Pullum |
Eya1 and Eya2 Gene Expression Is Down-Regulated During Somitic Myogenesis in the Cadmium-Induced Omphalocele Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
Eyal2 |
Pullum |
Altered PITX2 and LEF1 Gene Expression in the Cadmium-Induced Omphalocele in the Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
PITX2 |
Pullum |
Altered PITX2 and LEF1 Gene Expression in the Cadmium-Induced Omphalocele in the Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
LEF1 |
Pullum |
Homozygous Mutation in ELMO2 May Cause Ramon Syndrome |
Omphalocele |
Genome-wide microarray |
Blood / Cordal Cord |
Pbmc,Cord Blood |
ELMO2 |
Homo sapiens |
HoxB2, HoxB4 and Alx4 Genes Are Downregulated in the Cadmium-Induced Omphalocele in the Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
HoxB2 |
Pullum |
HoxB2, HoxB4 and Alx4 Genes Are Downregulated in the Cadmium-Induced Omphalocele in the Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
HoxB4 |
Pullum |
HoxB2, HoxB4 and Alx4 Genes Are Downregulated in the Cadmium-Induced Omphalocele in the Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
Alx4 |
Pullum |
MSX1 gene polymorphisms and non-syndromic cleft lip with or without palate (NSCL/P): A meta-analysis |
Omphalocele |
SNP genotyping by SNP array |
Blood |
Eripheral Blood Leukocytes |
MSX1 |
Homo sapiens |
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases |
Omphalocele |
DNA methylation analysis,Methylation profiling by |
Amniotic Fluid / Peripheral Blood Lymphocytes |
Amniotic Fluid Cells,Lymphoblast |
CDKN1C |
Homo sapiens |
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases |
Omphalocele |
DNA methylation analysis,Methylation profiling by |
Amniotic Fluid / Peripheral Blood Lymphocytes |
Amniotic Fluid Cells,Lymphoblast |
KCNQ1 |
Homo sapiens |
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases |
Omphalocele |
DNA methylation analysis,Methylation profiling by |
Amniotic Fluid / Peripheral Blood Lymphocytes |
Amniotic Fluid Cells,Lymphoblast |
PHLDA |
Homo sapiens |
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases |
Omphalocele |
DNA methylation analysis,Methylation profiling by |
Amniotic Fluid / Peripheral Blood Lymphocytes |
Amniotic Fluid Cells,Lymphoblast |
SLC22A18 |
Homo sapiens |
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases |
Omphalocele |
DNA methylation analysis,Methylation profiling by |
Amniotic Fluid / Lymphoid |
Amniotic Fluid Cells,Lymphoblast |
KCNQ1OT1:TSS-DMR |
Homo sapiens |
Genome-wide Association Study Reveals a QTL and Strong Candidate Genes for Umbilical Hernia in Pigs on SSC14 |
Omphalocele |
GWAS |
Blood / Lymphoid / Gonadal |
Whole Blood, Lymphocytes, Testis |
SSC14 |
Porcus |
A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family With Congenital Hypothyroidism |
Omphalocele |
Sanger sequencing |
Blood |
Whole Blood |
SLC5A5 |
Homo sapiens |
Downregulation of ROCK-I and ROCK-II Gene Expression in the Cadmium-Induced Ventral Body Wall Defect Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
ROCK-I |
Pullum |
Downregulation of ROCK-I and ROCK-II Gene Expression in the Cadmium-Induced Ventral Body Wall Defect Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
ROCK-II |
Pullum |
Two Patients With FOXF1 Mutations With Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins and Other Malformations: Two Different Presentations and Outcomes |
Omphalocele |
SNP microarray |
Lymphoid |
Peripheral Blood Lymphocytes |
FOXF1 |
Homo sapiens |
Manitoba-oculo-tricho-anal (MOTA) Syndrome Is Caused by Mutations in FREM1 |
Omphalocele |
Expression profiling by RT-PCR,genome-wide SNP arr |
Blood |
Whole Blood |
FREM1 |
Homo sapiens |
A Deletion Encompassing Zic3 in Bent Tail, a Mouse Model for X-linked Neural Tube Defects |
Omphalocele |
Expression profiling by RT-PCR |
Toes / Livers / Brain |
Cerebral Cortex,Others |
ZIC3 |
Mus musculus |
Disruption of GLI3-ZIC3 Interaction in the Cadmium-Induced Omphalocele Chick Model |
Omphalocele |
Expression profiling by RT-PCR |
Chick Embryos |
Blastocysts |
Gli3 |
Pullum |
A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome |
Omphalocele |
Others |
Others |
Others |
TWIST2 |
Homo sapiens |
Conditional Mutation of Fibroblast Growth Factor Receptors 1 and 2 Results in an Omphalocele in Mice Associated With Disruptions in Ventral Body Wall Muscle Formation |
Omphalocele |
Double strand direct sequencing |
Embryos |
Embryonic Stem Cells |
FGFR1 |
Mus musculus |
Conditional Mutation of Fibroblast Growth Factor Receptors 1 and 2 Results in an Omphalocele in Mice Associated With Disruptions in Ventral Body Wall Muscle Formation |
Omphalocele |
Double strand direct sequencing |
Embryos |
Embryonic Stem Cells |
FGFR2 |
Mus musculus |
PPP2R3C Gene Variants Cause Syndromic 46,XY Gonadal Dysgenesis and Impaired Spermatogenesis in Humans |
Omphalocele |
Sanger sequencing |
Others |
Others |
PPP2R3C |
Homo sapiens |
Association of NKX2-5, GATA4, and TBX5 Polymorphisms With Congenital Heart Disease in Egyptian Children |
Tetralogy of Fallot |
Genotyping by sanger sequencing method |
Blood |
Whole blood |
NKX2-5 |
Homo sapiens |
Association of NKX2-5, GATA4, and TBX5 Polymorphisms With Congenital Heart Disease in Egyptian Children |
Tetralogy of Fallot |
Genotyping by sanger sequencing method |
Blood |
Whole blood |
GATA4 |
Homo sapiens |
Association of NKX2-5, GATA4, and TBX5 Polymorphisms With Congenital Heart Disease in Egyptian Children |
Tetralogy of Fallot |
Genotyping by sanger sequencing method |
Blood |
Whole blood |
TBX5 |
Homo sapiens |
Silencing Mutations in JAG1 Gene May Play Crucial Roles in the Pathogenesis of Tetralogy of Fallot |
Tetralogy of Fallot |
Double strand direct sequencing |
Blood |
Whole blood |
JAG1 |
Homo sapiens |
A Novel GATA6 Mutation in Patients With Tetralogy of Fallot or Atrial Septal Defect |
Tetralogy of Fallot |
Double strand direct sequencing |
Blood |
Whole blood |
GATA6 |
Homo sapiens |
New Mutations in ZFPM2/FOG1 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle |
Tetralogy of Fallot |
Double strand direct sequencing |
Others |
Others |
ZFPM2 |
Homo sapiens |
New Mutations in ZFPM2/FOG1 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle |
Tetralogy of Fallot |
Double strand direct sequencing |
Others |
Others |
FOG2 |
Homo sapiens |
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
Tetralogy of Fallot |
Whole Exome Sequencing |
Others |
Others |
NOTCH1 |
Homo sapiens |
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
Tetralogy of Fallot |
Whole Exome Sequencing |
Others |
Others |
FLT4 |
Homo sapiens |
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
Tetralogy of Fallot |
Whole Exome Sequencing |
Others |
Others |
TBX1 |
Homo sapiens |
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
Tetralogy of Fallot |
Whole Exome Sequencing |
Others |
Others |
RYR1 |
Homo sapiens |
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
Tetralogy of Fallot |
Whole Exome Sequencing |
Others |
Others |
ZFPM1 |
Homo sapiens |
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
Tetralogy of Fallot |
Whole Exome Sequencing |
Others |
Others |
CAMTA2 |
Homo sapiens |
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
Tetralogy of Fallot |
Whole Exome Sequencing |
Others |
Others |
DLX6 |
Homo sapiens |
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
Tetralogy of Fallot |
Whole Exome Sequencing |
Others |
Others |
PCM1 |
Homo sapiens |
CpG Island Shore Methylation of ZFPM2 Is Identified in Tetralogy of Fallot Samples |
Tetralogy of Fallot |
Quantitative methylation analysis |
Heart |
Others |
ZFPM2 |
Homo sapiens |
HIRA Gene Is Lower Expressed in the Myocardium of Patients With Tetralogy of Fallot |
Tetralogy of Fallot |
Expression profiling by RT-PCR |
Heart |
Others |
HIRA |
Homo sapiens |
Prevalence and Spectrum of Nkx2.6 Mutations in Patients With Congenital Heart Disease |
Tetralogy of Fallot |
Double strand direct sequencing |
Blood |
PBMC |
NKX2-6 |
Homo sapiens |
NKX2.5 Mutations in Patients With Tetralogy of Fallot |
Tetralogy of Fallot |
Double strand direct sequencing |
Others |
Others |
NKX2-5 |
Homo sapiens |
New Mutations in ZFPM2/FOG2 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle |
Tetralogy of Fallot |
Standard cytogenetic techniques |
Blood |
Whole blood |
ZFPM2 |
Homo sapiens |
New Mutations in ZFPM2/FOG2 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle |
Tetralogy of Fallot |
Standard cytogenetic techniques |
Blood |
Whole blood |
FOG2 |
Homo sapiens |
New Mutations in ZFPM2/FOG2 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle |
Tetralogy of Fallot |
Standard cytogenetic techniques |
Blood |
Whole blood |
NKX2-5 |
Homo sapiens |
Morphological and Molecular Bases of Cardiac Development |
Tetralogy of Fallot |
Others |
Heart |
Others |
CR1 |
Homo sapiens |
Morphological and Molecular Bases of Cardiac Development |
Tetralogy of Fallot |
Others |
Heart |
Others |
PITX2 |
Homo sapiens |
Morphological and Molecular Bases of Cardiac Development |
Tetralogy of Fallot |
Others |
Heart |
Others |
ANF |
Homo sapiens |
Morphological and Molecular Bases of Cardiac Development |
Tetralogy of Fallot |
Others |
Heart |
Others |
MCH2A |
Homo sapiens |
Morphological and Molecular Bases of Cardiac Development |
Tetralogy of Fallot |
Others |
Heart |
Others |
BMP2 |
Homo sapiens |
Morphological and Molecular Bases of Cardiac Development |
Tetralogy of Fallot |
Others |
Heart |
Others |
BMP4 |
Homo sapiens |
Morphological and Molecular Bases of Cardiac Development |
Tetralogy of Fallot |
Others |
Heart |
Others |
BMP5 |
Homo sapiens |
Morphological and Molecular Bases of Cardiac Development |
Tetralogy of Fallot |
Others |
Heart |
Others |
BMP7 |
Homo sapiens |
Isolated Truncus Arteriosus Associated With a Mutation in the plexin-D1 Gene |
Truncus Arteriosus |
Whole exome sequencing |
Others |
Others |
PLXND1 |
Homo sapiens |
NKX2.5 Mutations in Patients With Congenital Heart Disease |
Truncus Arteriosus |
Double strand direct sequencing |
Blood / Lymphoid |
Whole blood, Lymphoblast |
NKX2-5 |
Homo sapiens |
Gata4 Regulates Hedgehog Signaling and Gata6 Expression for Outflow Tract Development |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Blood |
Whole blood |
GATA4 |
Homo sapiens |
Gata4 Regulates Hedgehog Signaling and Gata6 Expression for Outflow Tract Development |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Blood |
Whole blood |
GATA6 |
Homo sapiens |
NKX2-6 Related Congenital Heart Disease: Biallelic Homeodomain-Disrupting Variants and Truncus Arteriosus |
Truncus Arteriosus |
Sanger sequencing |
Blood |
Whole blood |
NKX2-6 |
Homo sapiens |
Dysregulation of TBX1 Dosage in the Anterior Heart Field Results in Congenital Heart Disease Resembling the 22q11.2 Duplication Syndrome |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Embryo |
Blastocysts |
TBX1 |
Mus musculus |
Meis2 Is Essential for Cranial and Cardiac Neural Crest Development |
Truncus Arteriosus |
Double strand direct sequencing |
Heart |
Others |
MEIS2 |
Mus musculus |
The SWI/SNF BAF-A Complex Is Essential for Neural Crest Development |
Truncus Arteriosus |
Double strand direct sequencing |
Heart |
Others |
ARID1A |
Mus musculus |
TBX20 Loss-Of-Function Mutation Responsible for Familial Tetralogy of Fallot or Sporadic Persistent Truncus Arteriosus |
Truncus Arteriosus |
Double strand direct sequencing |
Blood |
Whole blood |
TBX20 |
Homo sapiens |
Mutations in Hnrnpa1 Cause Congenital Heart Defects |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Heart |
Others |
Hnrnpa1 |
Mus musculus |
Positional Mapping of PRKD1, NRP1 and PRDM1 as Novel Candidate Disease Genes in Truncus Arteriosus |
Truncus Arteriosus |
Whole-exome sequencing |
Blood |
Whole blood |
PRKD1 |
Homo sapiens |
Positional Mapping of PRKD1, NRP1 and PRDM1 as Novel Candidate Disease Genes in Truncus Arteriosus |
Truncus Arteriosus |
Whole-exome sequencing |
Blood |
Whole blood |
NRP1 |
Homo sapiens |
Positional Mapping of PRKD1, NRP1 and PRDM1 as Novel Candidate Disease Genes in Truncus Arteriosus |
Truncus Arteriosus |
Whole-exome sequencing |
Blood |
Whole blood |
PRDM1 |
Homo sapiens |
Delineation of a Recognisable Phenotype of Interstitial Deletion 3 (q22.3q25.1) in a Case With Previously Unreported Truncus Arteriosus |
Truncus Arteriosus |
Expression profiling by CGH array |
Blood |
Whole blood |
FOXL2 |
Homo sapiens |
Lack of Gata3 Results in Conotruncal Heart Anomalies in Mouse |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Heart |
Others |
GATA3 |
Mus musculus |
Targeted Disruption of Semaphorin 3C Leads to Persistent Truncus Arteriosus and Aortic Arch Interruption |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Heart |
Others |
SEMA3C |
Mus musculus |
Cardiovascular Malformations in CHARGE Syndrome With DiGeorge Phenotype: Two Case Reports |
Truncus Arteriosus |
Double strand direct sequencing |
Blood |
Cord blood |
CHD7 |
Homo sapiens |
Characterization of the Mouse Tdgf1 Gene and Tdgf Pseudogenes |
Truncus Arteriosus |
Double strand direct sequencing |
Others |
NIH 3T3 cell line |
TDGF1 |
Mus musculus |
Dgcr8 Controls Neural Crest Cells Survival in Cardiovascular Development |
Truncus Arteriosus |
Double strand direct sequencing |
Embryo |
Blastocysts |
DGCR8 |
Mus musculus |
Comparative Analysis of Meox1 and Meox2 in the Developing Somites and Limbs of the Chick Embryo |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Embryo |
Blastocysts |
MEOX1 |
Gallus domesticus |
Comparative Analysis of Meox1 and Meox2 in the Developing Somites and Limbs of the Chick Embryo |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Embryo |
Blastocysts |
MEOX2 |
Gallus domesticus |
ASK1 Mediates the Teratogenicity of Diabetes in the Developing Heart by Inducing ER Stress and Inhibiting Critical Factors Essential for Cardiac Development |
Truncus Arteriosus |
Western blotting |
Heart |
Others |
ASK1 |
Mus musculus |
The Role of Pitx2 During Cardiac Development. Linking Left-Right Signaling and Congenital Heart Diseases |
Truncus Arteriosus |
Not metioned |
Not metioned |
Not metioned |
PITX2 |
Homo sapiens |
SWI/SNF Protein Component BAF250a Regulates Cardiac Progenitor Cell Differentiation by Modulating Chromatin Accessibility During Second Heart Field Development |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Embryo |
Blastocysts |
BAF250A |
Mus musculus |
Reduced Dosage of ?-Catenin Provides Significant Rescue of Cardiac Outflow Tract Anomalies in a Tbx1 Conditional Null Mouse Model of 22q11.2 Deletion Syndrome |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Embryo |
Blastocysts |
TBX1 |
Mus musculus |
Reduced Dosage of ?-Catenin Provides Significant Rescue of Cardiac Outflow Tract Anomalies in a Tbx1 Conditional Null Mouse Model of 22q11.2 Deletion Syndrome |
Truncus Arteriosus |
Expression profiling by RT-PCR |
Embryo |
Blastocysts |
WNT1 |
Mus musculus |
Hand1 Phosphomutant Mice: Dimer Choice That Is Not So Critical |
Truncus Arteriosus |
Double strand direct sequencing |
Embryo |
Blastocysts |
HAND1 |
Mus musculus |
Prenatal Diagnosis of an Unexpected Interstitial 22q11.2 Deletion Causing Truncus Arteriosus and Thymic Hypoplasia in a Ring 22 Chromosome Derived From a Maternally Inherited Paracentric Inversion |
Truncus Arteriosus |
Double strand direct sequencing |
Lymphoid |
Lymphocyte |
TUPLE1 |
Homo sapiens |
Cardiac Outflow Morphogenesis Depends on Effects of Retinoic Acid Signaling on Multiple Cell Lineages |
Truncus Arteriosus |
Not metioned |
Embryo |
Blastocysts |
RALDH2 |
Mus musculus |
Requirement of DLG1 for Cardiovascular Development and Tissue Elongation During Cochlear, Enteric, and Skeletal Development: Possible Role in Convergent Extension |
Truncus Arteriosus |
Not metioned |
Embryo |
Blastocysts |
DLG1 |
Mus musculus |
Transcriptional Deregulation and a Missense Mutation Define ANKRD1 as a Candidate Gene for Total Anomalous Pulmonary Venous Return |
Total Anomalous Pulmonary Venou |
Double strand direct sequencing |
Lymphoid |
Lymphoblastoid |
ANKRD1 |
Homo sapiens |
NKX2.5 Mutation Identification on Exome Sequencing in a Patient With Heterotaxy |
Total Anomalous Pulmonary Venou |
Exome sequencing |
Blood |
PBMC |
NKX2.5 |
Homo sapiens |
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) |
Total Anomalous Pulmonary Venou |
WGS |
Blood |
Whole blood |
CARP |
Homo sapiens |
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) |
Total Anomalous Pulmonary Venou |
WGS |
Blood |
Whole blood |
PDGFRA |
Homo sapiens |
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) |
Total Anomalous Pulmonary Venou |
WGS |
Blood |
Whole blood |
RBP5 |
Homo sapiens |
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) |
Total Anomalous Pulmonary Venou |
WGS |
Blood |
Whole blood |
NODAL |
Homo sapiens |
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) |
Total Anomalous Pulmonary Venou |
WGS |
Blood |
Whole blood |
TAVPR |
Homo sapiens |
Whole-exome Sequencing Identifies SGCD and ACVRL1 Mutations Associated With Total Anomalous Pulmonary Venous Return (TAPVR) in Chinese Population |
Total Anomalous Pulmonary Venou |
Whole-exome sequencing |
Blood |
Whole blood |
SGCD |
Homo sapiens |
Whole-exome Sequencing Identifies SGCD and ACVRL1 Mutations Associated With Total Anomalous Pulmonary Venous Return (TAPVR) in Chinese Population |
Total Anomalous Pulmonary Venou |
Whole-exome sequencing |
Blood |
Whole blood |
ACVRL1 |
Homo sapiens |
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection |
Total Anomalous Pulmonary Venou |
Next-generation Sequencing |
Blood |
Whole blood |
CLTCL1 |
Homo sapiens |
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection |
Total Anomalous Pulmonary Venou |
Next-generation Sequencing |
Blood |
Whole blood |
CST3 |
Homo sapiens |
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection |
Total Anomalous Pulmonary Venou |
Next-generation Sequencing |
Blood |
Whole blood |
GXYLT1 |
Homo sapiens |
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection |
Total Anomalous Pulmonary Venou |
Next-generation Sequencing |
Blood |
Whole blood |
HMGA2 |
Homo sapiens |
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection |
Total Anomalous Pulmonary Venou |
Next-generation Sequencing |
Blood |
Whole blood |
SNAI1 |
Homo sapiens |
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection |
Total Anomalous Pulmonary Venou |
Next-generation Sequencing |
Blood |
Whole blood |
VAV2 |
Homo sapiens |
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection |
Total Anomalous Pulmonary Venou |
Next-generation Sequencing |
Blood |
Whole blood |
ZDHHC8 |
Homo sapiens |
Congenital Second-Degree Heart Block and Total Anomalous Pulmonary Venous Return Associated With Microduplication of 1q32.2 |
Total Anomalous Pulmonary Venou |
CGH array |
Blood |
PBMC |
KCNH1 |
Homo sapiens |
Congenital Second-Degree Heart Block and Total Anomalous Pulmonary Venous Return Associated With Microduplication of 1q32.2 |
Total Anomalous Pulmonary Venou |
CGH array |
Blood |
PBMC |
KIAA0205 |
Homo sapiens |
Congenital Second-Degree Heart Block and Total Anomalous Pulmonary Venous Return Associated With Microduplication of 1q32.2 |
Total Anomalous Pulmonary Venou |
CGH array |
Blood |
PBMC |
LAMB3 |
Homo sapiens |
Congenital Second-Degree Heart Block and Total Anomalous Pulmonary Venous Return Associated With Microduplication of 1q32.2 |
Total Anomalous Pulmonary Venou |
CGH array |
Blood |
PBMC |
PPP2R5A |
Homo sapiens |
Sibling Recurrence of Total Anomalous Pulmonary Venous Drainage |
Total Anomalous Pulmonary Venou |
Whole exome sequencing |
Blood |
PBMC |
EFTUD2 |
Homo sapiens |
A Gene for Familial Total Anomalous Pulmonary Venous Return Maps to Chromosome 4p13-q12 |
Total Anomalous Pulmonary Venou |
Others |
Blood |
Whole blood |
TAVPR1 |
Homo sapiens |
De Novo Deletions and Duplications of 17q25.3 Cause Susceptibility to Cardiovascular Malformations |
Total Anomalous Pulmonary Venou |
SNP genotyping by SNP array |
Blood |
Whole blood |
ACTG1 |
Homo sapiens |
De Novo Deletions and Duplications of 17q25.3 Cause Susceptibility to Cardiovascular Malformations |
Total Anomalous Pulmonary Venou |
SNP genotyping by SNP array |
Blood |
Whole blood |
ARHGDIA |
Homo sapiens |
15q11.2 Deletion Is Enriched in Patients With Total Anomalous Pulmonary Venous Connection |
Total Anomalous Pulmonary Venou |
Chromosomal Microarray |
Blood |
Whole blood |
TUBGCP5 |
Homo sapiens |
A Male Newborn With Simpson-Golabi-Behmel Syndrome, Presenting With Metopic Synostosis, Anal Atresia, and Total Anomalous Pulmonary Venous Return |
Total Anomalous Pulmonary Venou |
Others |
Others |
Others |
GPC3 |
Homo sapiens |
A De Novo Atypical Ring sSMC(22) Characterized by Array CGH in a Boy With Cat-Eye Syndrome |
Total Anomalous Pulmonary Venou |
Double strand direct sequencing |
Lymphoid |
Lymphocytes |
CECR1 |
Homo sapiens |
Expression of connexin-43 in the Cardiac Muscle of Children Diagnosed With Hypoplastic Left Heart Syndrome: A Western Blot and Confocal Laser Scanning Microscopy Study |
Hypoplastic Left Heart Syndrome |
Western blot |
Heart |
Others |
GJA1 |
Homo sapiens |
Cardiac Homeobox Gene NKX2-5 Mutations and Congenital Heart Disease: Associations With Atrial Septal Defect and Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
DNA sequencing analysis |
Blood |
Whole blood |
NKX2-5 |
Homo sapiens |
Novel Compound Heterozygous TBX5 Variants May Induce Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
Directed next-generation sequencing |
Blood |
Whole blood |
TBX5 |
Homo sapiens |
Compound Heterozygous NOTCH1 Mutations Underlie Impaired Cardiogenesis in a Patient With Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
Array comparative genomic hybridization |
Blood / Salivary gland |
PBMC?Saliva |
NOTCH1 |
Homo sapiens |
Impact of MYH6 Variants in Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
Next-generation sequencing |
Heart |
Others |
MYH6 |
Homo sapiens |
The Contribution of De Novo and Rare Inherited Copy Number Changes to Congenital Heart Disease in an Unselected Sample of Children With Conotruncal Defects or Hypoplastic Left Heart Disease |
Hypoplastic Left Heart Syndrome |
DNA microarray |
Blood / Salivary gland |
Whole blood,Saliva |
GATA4 |
Homo sapiens |
The Contribution of De Novo and Rare Inherited Copy Number Changes to Congenital Heart Disease in an Unselected Sample of Children With Conotruncal Defects or Hypoplastic Left Heart Disease |
Hypoplastic Left Heart Syndrome |
DNA microarray |
Blood / Salivary gland |
Whole blood,Saliva |
NODAL |
Homo sapiens |
Directed Differentiation of Patient-Specific Induced Pluripotent Stem Cells Identifies the Transcriptional Repression and Epigenetic Modification of NKX2-5, HAND1, and NOTCH1 in Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
Expression profiling by RT-PCR |
Heart |
Others |
HAND1 |
Homo sapiens |
Directed Differentiation of Patient-Specific Induced Pluripotent Stem Cells Identifies the Transcriptional Repression and Epigenetic Modification of NKX2-5, HAND1, and NOTCH1 in Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
Expression profiling by RT-PCR |
Heart |
Others |
NKX2-5 |
Homo sapiens |
Directed Differentiation of Patient-Specific Induced Pluripotent Stem Cells Identifies the Transcriptional Repression and Epigenetic Modification of NKX2-5, HAND1, and NOTCH3 in Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
Expression profiling by RT-PCR |
Heart |
Others |
NOTCH1 |
Homo sapiens |
The Complex Genetics of Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
RNA-seq |
Heart |
Others |
SAP130 |
Mus musculus |
The Complex Genetics of Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
RNA-seq |
Heart |
Others |
PCDHA13 |
Mus musculus |
The Genetic Landscape of Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
RNA-seq |
Heart |
Others |
PCDHA9 |
Mus musculus |
Alveolar Capillary Dysplasia With Misalignment of the Pulmonary Veins and Hypoplastic Left Heart Sequence Caused by an in Frame Deletion Within FOXF1 |
Hypoplastic Left Heart Syndrome |
Rapid exome sequencing |
Heart |
Others |
FOXF1 |
Homo sapiens |
Rbfox2 Function in RNA Metabolism Is Impaired in Hypoplastic Left Heart Syndrome Patient Hearts |
Hypoplastic Left Heart Syndrome |
Expression profiling by RT-PCR |
Heart |
Others |
RBFOX2 |
Homo sapiens |
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion |
Hypoplastic Left Heart Syndrome |
Whole-genome aCGH |
Fetus |
Amniotic fluid cells |
SHOX |
Homo sapiens |
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion |
Hypoplastic Left Heart Syndrome |
Whole-genome aCGH |
Fetus |
Amniotic fluid cells |
CSF2RA |
Homo sapiens |
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion |
Hypoplastic Left Heart Syndrome |
Whole-genome aCGH |
Fetus |
Amniotic fluid cells |
ARSE |
Homo sapiens |
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion |
Hypoplastic Left Heart Syndrome |
Whole-genome aCGH |
Fetus |
Amniotic fluid cells |
SOX3 |
Homo sapiens |
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion |
Hypoplastic Left Heart Syndrome |
Whole-genome aCGH |
Fetus |
Amniotic fluid cells |
FMR1 |
Homo sapiens |
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion |
Hypoplastic Left Heart Syndrome |
Whole-genome aCGH |
Fetus |
Amniotic fluid cells |
MECP2 |
Homo sapiens |
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion |
Hypoplastic Left Heart Syndrome |
Whole-genome aCGH |
Fetus |
Amniotic fluid cells |
RAB39B |
Homo sapiens |
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion |
Hypoplastic Left Heart Syndrome |
Whole-genome aCGH |
Fetus |
Amniotic fluid cells |
CLI2 |
Homo sapiens |
Severe Peters Plus Syndrome-Like Phenotype With Anterior Eye Staphyloma and Hypoplastic Left Heart Syndrome: Proposal of a New Syndrome |
Hypoplastic Left Heart Syndrome |
Double strand direct sequencing |
Lymphoid |
Lymphocyte |
B3GALTL |
Homo sapiens |
Alveolar Capillary Dysplasia With Misalignment of the Pulmonary Veins and Hypoplastic Left Heart Sequence Caused by an in Frame Deletion Within FOXF1 |
Pulmonary Atresia |
Rapid exome sequencing |
Heart |
Others |
FOXF1 |
Homo sapiens |
Temporally Distinct Six2-Positive Second Heart Field Progenitors Regulate Mammalian Heart Development and Disease |
Pulmonary Atresia |
Double strand direct sequencing |
Heart |
Others |
SHH |
Mus musculus |
Temporally Distinct Six2-Positive Second Heart Field Progenitors Regulate Mammalian Heart Development and Disease |
Pulmonary Atresia |
Double strand direct sequencing |
Heart |
Others |
SIX2 |
Mus musculus |
Detecting 22q11.2 Deletion in Chinese Children With Conotruncal Heart Defects and Single Nucleotide Polymorphisms in the Haploid TBX1 Locus |
Pulmonary Atresia |
Double strand direct sequencing |
Lymphoid |
Lymphocytes |
TBX1 |
Mus musculus |
Changes of Seral TNF-alpha, IL-6 and IL-10 Level After Implantation of Valved Bovine Jugular Vein Conduit in Complex Congenital Heart Diseases |
Pulmonary Atresia |
Double strand direct sequencing |
Blood |
PBMC |
IL6 |
Homo sapiens |
Changes of Seral TNF-alpha, IL-6 and IL-10 Level After Implantation of Valved Bovine Jugular Vein Conduit in Complex Congenital Heart Diseases |
Pulmonary Atresia |
Double strand direct sequencing |
Blood |
PBMC |
TNF |
Homo sapiens |
Changes of Seral TNF-alpha, IL-6 and IL-10 Level After Implantation of Valved Bovine Jugular Vein Conduit in Complex Congenital Heart Diseases |
Pulmonary Atresia |
Double strand direct sequencing |
Blood |
PBMC |
IL10 |
Homo sapiens |
Compound Heterozygous NOTCH1 Mutations Underlie Impaired Cardiogenesis in a Patient With Hypoplastic Left Heart Syndrome |
Pulmonary Atresia |
Array comparative genomic hybridization |
Blood / Salivary gland |
PBMC?Saliva |
NOTCH1 |
Homo sapiens |
Association of Growth/Differentiation Factor 1 Gene Polymorphisms With the Risk of Congenital Heart Disease in the Chinese Han Population |
Pulmonary Atresia |
SNP genotyping by SNP array |
Blood |
PBMC |
GDF1 |
Homo sapiens |
Fgf10 Gene Expression Is Delayed in the Embryonic Lung Mesenchyme in the Adriamycin Mouse Model |
Pulmonary Atresia |
Others |
Embryo |
Embryonic stem cells |
FGF10 |
Mus musculus |
Treatment of Children With Protein - Losing Enteropathy After Fontan and Other Complex Congenital Heart Disease Procedures in Condition With Limited Human and Technical Resources |
Pulmonary Atresia |
Others |
Blood |
Whole blood |
ACE |
Homo sapiens |
Novel JAG1 Deletion Variant in Patient With Atypical Alagille Syndrome |
Pulmonary Atresia |
Next-Generation Sequencing |
Blood |
Whole blood |
JAG1 |
Homo sapiens |
Novel JAG1 Deletion Variant in Patient With Atypical Alagille Syndrome |
Pulmonary Atresia |
Next-Generation Sequencing |
Blood |
Whole blood |
NOTCH2 |
Homo sapiens |
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect |
Pulmonary Atresia |
Whole-Exome Sequencing |
Blood |
Whole blood |
FLT4 |
Homo sapiens |
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect |
Pulmonary Atresia |
Whole-Exome Sequencing |
Blood |
Whole blood |
PPP4C |
Homo sapiens |
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect |
Pulmonary Atresia |
Whole-Exome Sequencing |
Blood |
Whole blood |
RICTOR |
Homo sapiens |
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease |
Tricuspid Atresia |
Double strand direct sequencing |
Lymphoid |
leukocytes |
NKX2.5 |
Homo sapiens |
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease |
Tricuspid Atresia |
Double strand direct sequencing |
Lymphoid |
leukocytes |
GATA4 |
Homo sapiens |
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease |
Tricuspid Atresia |
Double strand direct sequencing |
Lymphoid |
leukocytes |
TBX1 |
Homo sapiens |
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease |
Tricuspid Atresia |
Double strand direct sequencing |
Lymphoid |
leukocytes |
TBX5 |
Homo sapiens |
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease |
Tricuspid Atresia |
Double strand direct sequencing |
Lymphoid |
leukocytes |
TBX20 |
Homo sapiens |
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease |
Tricuspid Atresia |
Double strand direct sequencing |
Lymphoid |
leukocytes |
CFC1 |
Homo sapiens |
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease |
Tricuspid Atresia |
Double strand direct sequencing |
Lymphoid |
leukocytes |
ZIC3 |
Homo sapiens |
ZFPM2/FOG2 and HEY2 Genes Analysis in Nonsyndromic Tricuspid Atresia |
Tricuspid Atresia |
Double strand direct sequencing |
Blood |
Whole blood |
ZFPM2 |
Homo sapiens |
ZFPM2/FOG2 and HEY3 Genes Analysis in Nonsyndromic Tricuspid Atresia |
Tricuspid Atresia |
Double strand direct sequencing |
Blood |
Whole blood |
FOG2 |
Homo sapiens |
ZFPM2/FOG2 and HEY3 Genes Analysis in Nonsyndromic Tricuspid Atresia |
Tricuspid Atresia |
Double strand direct sequencing |
Blood |
Whole blood |
HEY2 |
Homo sapiens |
Two Heterozygous Mutations in NFATC1 in a Patient With Tricuspid Atresia |
Tricuspid Atresia |
Double strand direct sequencing |
Blood |
Whole blood |
NFATC1 |
Homo sapiens |
Determination of a New Mutation in MT-ND1 Gene of a Patient With Dextrocardia, Ventriculoarterial Discordance, and Tricuspid Atresia |
Tricuspid Atresia |
Double strand direct sequencing |
Heart |
Others |
MTND1 |
Homo sapiens |
A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family |
Tricuspid Atresia |
Exome sequencing |
Blood |
Whole blood |
RASA1 |
Homo sapiens |
Identification and Analysis of KLF13 Variants in Patients With Congenital Heart Disease |
Tricuspid Atresia |
Double strand direct sequencing |
Blood |
Whole blood |
KLF13 |
Homo sapiens |
Neonatal Marfan Syndrome: Unusually Large Deletion of Exons 24-26 of FBN1 Associated With Poor Prognosis |
Tricuspid Atresia |
Postmortal molecular study |
Others |
Others |
FBN1 |
Homo sapiens |
A Syndrome of Tricuspid Atresia in Mice With a Targeted Mutation of the Gene Encoding Fog-2 |
Tricuspid Atresia |
Double strand direct sequencing |
Embryo |
Blastocysts |
FOG2 |
Mus musculus |
Mandibular Dysmorphology Due to Abnormal Embryonic Osteogenesis in FGFR2-related Craniosynostosis Mice |
Craniosynostosis |
RNA-seq |
Embryo |
Blastocysts |
FGFR2 |
Mus musculus |
ERF-related Craniosynostosis: The Phenotypic and Developmental Profile of a New Craniosynostosis Syndrome |
Craniosynostosis |
Others |
Others |
Others |
ETS2 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
AHDC1 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
EFNB1 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
FBN1 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
IL11RA |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
KRAS |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
MSX2 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
STAT3 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
CDC45 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
HUWE1 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
1L11RA |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
NTEK2 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
TWIST1 |
Homo sapiens |
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis |
Craniosynostosis |
Exome and whole genome sequencing |
Blood |
Whole blood |
ZIC1 |
Homo sapiens |
Novel 1q22-q23.1 Duplication in a Patient With Lambdoid and Metopic Craniosynostosis, Muscular Hypotonia, and Psychomotor Retardation |
Craniosynostosis |
Expression profiling by RT-PCR |
Blood |
Peripheral blood |
LMNA |
Homo sapiens |
Novel 1q22-q23.1 Duplication in a Patient With Lambdoid and Metopic Craniosynostosis, Muscular Hypotonia, and Psychomotor Retardation |
Craniosynostosis |
Expression profiling by RT-PCR |
Blood |
Peripheral blood |
BGLAP |
Homo sapiens |
Bilateral Radial Agenesis With Absent Thumbs, Complex Heart Defect, Short Stature, and Facial Dysmorphism in a Patient With Pure Distal Microduplication of 5q35.2-5q35.3 |
Craniosynostosis |
Quantitative real-time PCR |
Blood |
peripheral blood |
MSX2 |
Homo sapiens |
Bilateral Radial Agenesis With Absent Thumbs, Complex Heart Defect, Short Stature, and Facial Dysmorphism in a Patient With Pure Distal Microduplication of 5q35.2-5q35.3 |
Craniosynostosis |
Quantitative real-time PCR |
Blood |
peripheral blood |
FGFR4 |
Homo sapiens |
Mutations in TCF12, Encoding a Basic Helix-Loop-Helix Partner of TWIST1, Are a Frequent Cause of Coronal Craniosynostosis |
Craniosynostosis |
Exome sequencing |
Blood |
Whole blood |
TCF12 |
Homo sapiens |
Mutations in TCF12, Encoding a Basic Helix-Loop-Helix Partner of TWIST1, Are a Frequent Cause of Coronal Craniosynostosis |
Craniosynostosis |
Exome sequencing |
Blood |
Whole blood |
TWIST1 |
Homo sapiens |
ALX4 Gain-Of-Function Mutations in Nonsyndromic Craniosynostosis |
Craniosynostosis |
Double strand direct sequencing |
Blood |
Whole blood |
ALX4 |
Homo sapiens |
Gain-of-Function Mutations in ZIC1 Are Associated With Coronal Craniosynostosis and Learning Disability |
Craniosynostosis |
Whole Genome/Exome Sequencing |
Blood |
Whole blood |
ZIC1 |
Homo sapiens |
RECQL4 Regulates p53 Function In Vivo During Skeletogenesis |
Craniosynostosis |
Expression profiling by RT-PCR |
Forelimb |
Others |
RECQL4 |
Mus musculus |
Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis via Rare SMAD6 and Common BMP2 Alleles |
Craniosynostosis |
Exome sequencing |
Salivary gland |
Saliva |
SMAD6 |
Homo sapiens |
Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis via Rare SMAD6 and Common BMP2 Alleles |
Craniosynostosis |
Exome sequencing |
Salivary gland |
Saliva |
BMP2 |
Homo sapiens |
Therapeutic Effect of Nanogel-Based Delivery of Soluble FGFR2 With S252W Mutation on Craniosynostosis |
Craniosynostosis |
Expression profiling by RT-PCR |
Blood |
Whole blood |
FGF10 |
Mus musculus |
Therapeutic Effect of Nanogel-Based Delivery of Soluble FGFR2 With S252W Mutation on Craniosynostosis |
Craniosynostosis |
Expression profiling by RT-PCR |
Blood |
Whole blood |
FGFR2B |
Mus musculus |
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental Retardation Disorders Revisited |
Craniosynostosis |
SSCP or DHPLC analysis |
Blood |
Whole blood |
FBN1 |
Homo sapiens |
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental Retardation Disorders Revisited |
Craniosynostosis |
SSCP or DHPLC analysis |
Blood |
Whole blood |
TGFBR1 |
Homo sapiens |
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome |
Craniosynostosis |
Sanger sequencing |
Blood |
Peripheral blood |
GLI3 |
Homo sapiens |
Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-Mediated mRNA Decay |
Craniosynostosis |
Quantification of NMD by pyrosequencing |
Blood |
Peripheral blood |
RAB23 |
Homo sapiens |
Clinical and Molecular Genetic Characterization of a Male Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) and Biallelic WDR35 Mutations |
Craniosynostosis |
Molecular Genetic Analysis |
Blood |
Peripheral blood |
WDR35 |
Homo sapiens |
Loss-of-function and Gain-Of-Function Mutations in PPP3CA Cause Two Distinct Disorders |
Craniosynostosis |
Whole exome sequencing |
Blood |
Whole blood |
PPP3CA |
Homo sapiens |
A Syndrome of Altered Cardiovascular, Craniofacial, Neurocognitive and Skeletal Development Caused by Mutations in TGFBR1 or TGFBR2 |
Craniosynostosis |
Western-blot analysis |
Others |
Others |
TGFBR1 |
Homo sapiens |
A Syndrome of Altered Cardiovascular, Craniofacial, Neurocognitive and Skeletal Development Caused by Mutations in TGFBR1 or TGFBR3 |
Craniosynostosis |
Western-blot analysis |
Others |
Others |
TGFBR2 |
Homo sapiens |
Cole-Carpenter syndrome-1 With a De Novo Heterozygous Deletion in the P4HB Gene in a Chinese Girl: A Case Report |
Craniosynostosis |
Whole exome sequencing |
Blood |
Peripheral blood |
P4HB |
Homo sapiens |
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome With Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction |
Craniosynostosis |
Exome or whole-genome sequencing |
Blood |
Peripheral blood |
SLC25A24 |
Homo sapiens |
Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated With Defective Lateralization |
Craniosynostosis |
SNP genotyping by SNP array |
Blood |
Whole blood |
MEGF8 |
Homo sapiens |
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis |
Craniosynostosis |
Whole-Genome and Exome Sequencing |
Others |
Others |
CDC45 |
Homo sapiens |
X-linked Hypophosphatemic Rickets and Craniosynostosis |
Craniosynostosis |
Bidirectional sequencing of polymerase chain react |
Others |
Others |
FGF23 |
Homo sapiens |
X-linked Hypophosphatemic Rickets and Craniosynostosis |
Craniosynostosis |
Bidirectional sequencing of polymerase chain react |
Others |
Others |
PHEX |
Homo sapiens |
Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature |
Craniosynostosis |
High-resolution genome-wide DNA microarray |
Blood |
Whole blood |
CYP26B1 |
Homo sapiens |
COLEC10 Is Mutated in 3MC Patients and Regulates Early Craniofacial Development |
Craniosynostosis |
Whole exome sequencing |
Blood |
Whole blood |
COLEC10 |
Homo sapiens |
Expanding the SPECC1L Mutation Phenotypic Spectrum to Include Teebi Hypertelorism Syndrome |
Craniosynostosis |
SNP microarray, negative MID1 sequencing |
Blood |
Whole blood |
SPECC1L |
Homo sapiens |
Japanese Patient With Cole-carpenter Syndrome With Compound Heterozygous Variants of SEC24D |
Craniosynostosis |
Whole exome sequencing |
Blood |
Whole blood |
SEC24D |
Homo sapiens |
Heterozygous Mutations of FREM1 Are Associated With an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice |
Craniosynostosis |
Double strand direct sequencing |
Blood |
Whole blood |
FREM1 |
Mus musculus / Homo sapiens |
Increased FGF8 Signaling Promotes Chondrogenic Rather Than Osteogenic Development in the Embryonic Skull |
Craniosynostosis |
RNA-seq |
Bone / cartilage |
Others |
FGF8 |
Mus musculus |
An Autosomal Dominant High Bone Mass Phenotype in Association With Craniosynostosis in an Extended Family Is Caused by an LRP5 Missense Mutation |
Craniosynostosis |
Double strand direct sequencing |
Blood |
Peripheral blood |
LRP5 |
Homo sapiens |
Phenotype Delineation of ZNF462 Related Syndrome |
Craniosynostosis |
Double strand direct sequencing |
Blood |
Peripheral blood |
ZNF462 |
Homo sapiens |
Duplication of 10q24 Locus: Broadening the Clinical and Radiological Spectrum |
Upper and Lower Limb Reduction Defects |
Array CGH |
Blood |
Peripheral blood |
SHFM3 |
Homo sapiens |
Isolated Terminal Limb Reduction Defects: Extending the Clinical Spectrum of Adams-Oliver Syndrome and ARHGAP31 Mutations |
Craniosynostosis |
Sanger sequencing |
Blood |
Peripheral blood |
ARHGAP31 |
Homo sapiens |
Periventricular Nodular Heterotopia and Transverse Limb Reduction Defect in a Woman With Interstitial 11q24 Deletion in the Jacobsen Syndrome Region |
Upper and Lower Limb Reduction Defects |
Sanger sequencing,Genomic microarray |
Blood |
Peripheral blood |
FLNA |
Homo sapiens |
Severe Ipsilateral Musculoskeletal Involvement in a Cornelia De Lange Patient With a Novel NIPBL Mutation |
Upper and Lower Limb Reduction Defects |
Exome sequencing, Sanger sequencing, Array compara |
Epithelial tissue / Blood |
Oral mucosa epithelial cells,Peripheral blood |
NIPBL |
Homo sapiens |
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations |
Upper and Lower Limb Reduction Defects |
Whole exome sequencing?Sanger sequencing |
Not mentioned |
Not mentioned |
ESCO2 |
Homo sapiens |
Upper Limb Phocomelia: A Prenatal Case of Thrombocytopenia-Absent Radius (TAR) Syndrome Illustrating the Importance of Chromosomal Microarray in Limb Reduction Defects |
Upper and Lower Limb Reduction Defects |
Array-CGH |
Liver |
Others |
RBM8A |
Homo sapiens |