ArticlePloS one2016
A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis.Medicine · 2017Pooled it
- Characterization of a NovelInternational journal of molecular sciences · 2025Article
- Nomilin Reversed Cardiotoxicity Caused by Co-exposure to Zearalenone and Deoxynivalenol via the Keap1/Nrf2 Signaling Pathway in Zebrafish.Plant foods for human nutrition (Dordrecht, Netherlands) · 2024Article
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- Human Genetics of Atrial Septal Defect.Advances in experimental medicine and biology · 2024Review
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- Functional analysis of the congenital heart disease‑associated GATA4 H436Y mutation in vitro.Molecular medicine reports · 2019Article
- The rare mutation in the endosome-associated recycling protein geneMolecular cytogenetics · 2019Article
- [Establishment and verification of a mouse model ofNan fang yi ke da xue xue bao = Journal of Southern Medical University · 2018Article
- GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.Frontiers in endocrinology · 2018Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital heart disease (CHD) is the most prevalent type of birth defect in human, with high morbidity in infant. Several genes essential for heart development have been identified. GATA4 is a pivotal transcription factor that can regulate the cardiac development. Many GATA4 mutations have been identified in patients with different types of CHD.
aimsIn this study, the NKX2-5, HAND1 and GATA4 coding regions were sequenced in a family spanning three generations in which seven patients had CHD. Disease-causing potential variation in this family was evaluated by bioinformatics programs and the transcriptional activity of mutant protein was analyzed by the dual luciferase reporter assay.
resultsA novel GATA4 mutation, c.C931T (p.R311W), was identified and co-segregated with the affected patients in this family. The bioinformatics programs predicted this heterozygous mutation to be deleterious and the cross-species alignment of GATA4 sequences showed that the mutation occurred within a highly conserved amino acid. Even though it resided in the nuclear localization signal domain, the mutant protein didn't alter its intracellular distribution. Nevertheless, further luciferase reporter assay demonstrated that the p.R311W mutation reduced the ability of GATA4 to activate its downstream target gene.
conclusionsOur study identified a novel mutation in GATA4 that likely contributed to the CHD in this family. This finding expanded the spectrum of GATA4 mutations and underscored the pathogenic correlation between GATA4 mutations and CHD.
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