Journal
GENE
Volume 534, Issue 2, Pages 320-323Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2013.10.028
Keywords
Congenital heart disease; Atrial septal defect; ASD; GATA4; Transcription factor
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Funding
- National Basic Research Program of China (973 Program) [2012CB517900]
- National Natural Science Foundation of China [30800476]
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Congenital heart disease (CHD) is the most common birth defect in humans, and the etiology of most CHD remains to be elusive. Atrial septal defect (ASD) makes up 30-40% of all adult CHDs and is thought to be genetically heterogeneous. Previous studies have demonstrated that mutations in transcription factors e.g. NKX2.5, GATA4, and TBX5 contribute to congenital ASD. In this study, we investigate a family of three generations with seven patients with ASD and pulmonary valve stenosis (PS). A novel GATA4 mutation, c.955A>G (p.K319E), was identified and co-segregated with the affected patients in this family. This mutation was predicted to be deleterious by three different bioinformatics programs (The polyphen2, SIFT and MutationTaster). Our finding expands the spectrum of GATA4 mutations and provides additional support that GATA4 plays important roles in cardiac development. (C) 2013 Elsevier B.V. All rights reserved.
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