ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 50 citations in OpenAlex.
- Prenatal diagnostic value of medium-coverage WGS and clinical Exome sequencing in fetal congenital heart disease.Future science OA · 2025Article
- Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Elevated microRNA-187 causes cardiac endothelial dysplasia to promote congenital heart disease through inhibition of NIPBL.The Journal of clinical investigation · 2024Article
- Human Genetics of Atrioventricular Septal Defect.Advances in experimental medicine and biology · 2024Review
- Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy.Global medical genetics · 2024Article
- Review
- Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities.Diagnostics (Basel, Switzerland) · 2023Article
- Genetic analysis of right heart structure and function in 40,000 people.Nature genetics · 2022Article
- A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation.Molecular syndromology · 2022Article
- Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4.Molecular genetics and genomics : MGG · 2022Article
- Article
- Review
- Congenital heart defects among Down's syndrome cases: an updated review from basic research to an emerging diagnostics technology and genetic counselling.Journal of genetics · 2021Review
- Importance of early detection of juvenile polyposis syndrome: A case report and literature review.Medicine · 2020Review
- Genetics of atrioventricular canal defects.Italian journal of pediatrics · 2020Review
- Genetics of Congenital Heart Disease.Biomolecules · 2019Review
- Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.Molecular genetics & genomic medicine · 2019Article
- A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A.Scientific reports · 2019Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
- Article
Corrections and comments
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Authors and funding
18 authors at 11 institutions in 6 countries.
Funding
Abstract
purposeThe genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of nonsyndromic individuals with AVSD.
methodsWhole-exome sequencing was performed in 81 unrelated probands with AVSD to identify potentially causal variants in a comprehensive set of 112 genes with strong biological relevance to AVSD.
resultsA significant enrichment of rare and rare damaging variants was identified in the gene set, compared with controls (odds ratio (OR): 1.52; 95% confidence interval (CI): 1.35-1.71; P = 4.8 × 10(-11)). The enrichment was specific to AVSD probands, compared with a cohort without AVSD with tetralogy of Fallot (OR: 2.25; 95% CI: 1.84-2.76; P = 2.2 × 10(-16)). Six genes (NIPBL, CHD7, CEP152, BMPR1a, ZFPM2, and MDM4) were enriched for rare variants in AVSD compared with controls, including three syndrome-associated genes (NIPBL, CHD7, and CEP152). The findings were confirmed in a replication cohort of 81 AVSD probands.
conclusionMutations in genes with strong biological relevance to AVSD, including syndrome-associated genes, can contribute to AVSD, even in those with isolated heart disease. The identification of a gene set associated with AVSD will facilitate targeted genetic screening in this cohort.
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