Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects-Reference-Cited by-同舟云学术

Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects

Published:2009-08-13 Issue:5 Volume:19 Page:482-485
ISSN:1047-9511
Container-title:Cardiology in the Young
language:en
Short-container-title:Cardiol Young

Author:

Hamanoue Haruka,Rahayuningsih Sri Endah,Hirahara Yuya,Itoh Junko,Yokoyama Utako,Mizuguchi Takeshi,Saitsu Hirotomo,Miyake Noriko,Hirahara Fumiki,Matsumoto Naomichi

Abstract

AbstractWe analysed the GATA binding protein 4 gene, or GATA4, along with the NK2 transcription factor related, locus 5 gene, or NKX2.5, to determine their genetic contribution to 104 sporadic patients in Indonesia with congenitally malformed hearts, 76 cases having atrial septal defect and 28 tetralogy of Fallot. We found only 1 novel mutation of GATA4 in those with atrial septal defecst. Analysis of the genetic background of the parents of the patient showed for the first time that a new mutation of GATA4 can cause sporadic atrial septal defects. We failed to discover any other mutations of either the GATA4 or NKX2-5 genes, supporting the marked genetic heterogeneity of human congenital cardiac defects.

Publisher

Cambridge University Press (CUP)

Subject

Cardiology and Cardiovascular Medicine,General Medicine,Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. GATA4 sequence variants in patients with congenital heart disease

2. A novel mutation in theGATA4 gene in patients with Tetralogy of Fallot

3. Cardiac transcription factor Csx/Nkx2-5: Its role in cardiac development and diseases

4. NKX2.5 Mutations in Patients With Tetralogy of Fallot

5. Mutations inGATA4,NKX2.5,CRELD1, andBMP4 are infrequently found in patients with congenital cardiac septal defects

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