ArticleDNA and cell biology2012
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot.
Article in DNA and cell biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 57 citations in OpenAlex.
- The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.Genome research · 2026Article
- Article
- Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.International journal of molecular sciences · 2025Article
- GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis.bioRxiv : the preprint server for biology · 2025Article
- SomaticExperimental and therapeutic medicine · 2024Article
- Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.Pediatric research · 2024Article
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.Journal of the American Heart Association · 2023Article
- A novel causative functional mutation in GATA6 gene is responsible for familial dilated cardiomyopathy as supported by in silico functional analysis.Scientific reports · 2022Article
- Article
- GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.American journal of medical genetics. Part A · 2019Article
- Atrial Fibrillation Genetics Update: Toward Clinical Implementation.Frontiers in cardiovascular medicine · 2019Review
- Genetic and Functional Variants Analysis of theFrontiers in genetics · 2019Article
- Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.Omics : a journal of integrative biology · 2018Review
- Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Disease models & mechanisms · 2017Review
- HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Pediatric cardiology · 2017Article
- A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.PloS one · 2016Article
- Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population.Pediatric cardiology · 2015Article
- Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.G3 (Bethesda, Md.) · 2015Article
- Novel and functional DNA sequence variants within the GATA6 gene promoter in ventricular septal defects.International journal of molecular sciences · 2014Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart disease (CHD) is the most common form of developmental malformation and is the leading noninfectious cause of infant mortality. Emerging evidence indicates that genetic defects are involved in the pathogenesis of CHD. Nevertheless, CHD is genetically heterogeneous, and the molecular basis for CHD in a majority of patients remains unknown. In this study, the whole coding region of GATA6, a gene encoding a zinc-finger transcription factor crucial for normal cardiogenesis, was sequenced in 380 unrelated patients with CHD. The relatives of the index patients harboring the identified mutations and 200 unrelated control individuals were subsequently genotyped. The functional effect of the mutations was characterized using a luciferase reporter assay system. As a result, two novel heterozygous GATA6 mutations, p.D404Y and p.E460X, were identified in two families with ventricular septal defect and tetralogy of Fallot, respectively. The mutations co-segregated with CHD in the families with complete penetrance, and were absent in 400 control chromosomes. Functional analysis demonstrated that the mutated GATA6 proteins were associated with significantly decreased transactivational activity in comparison with their wild-type counterpart. These findings provide novel insight into the molecular mechanism implicated in CHD, suggesting potential implications for the early prophylaxis and personalized treatment of CHD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.