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A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis.
- Source :
-
Gene [Gene] 2014 Jan 25; Vol. 534 (2), pp. 320-3. - Publication Year :
- 2014
-
Abstract
- 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.955ANG (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.
- Subjects :
- Adult
Amino Acid Sequence
Child, Preschool
Computational Biology methods
Female
Genetic Predisposition to Disease
Heart Defects, Congenital genetics
Humans
Male
Middle Aged
Molecular Sequence Data
Sequence Alignment
GATA4 Transcription Factor genetics
Heart Septal Defects, Atrial genetics
Mutation
Pulmonary Valve Stenosis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1879-0038
- Volume :
- 534
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Gene
- Publication Type :
- Academic Journal
- Accession number :
- 24498650