Journal
CARDIOLOGY IN THE YOUNG
Volume 19, Issue 5, Pages 482-485Publisher
CAMBRIDGE UNIV PRESS
DOI: 10.1017/S1047951109990813
Keywords
genetic inheritance; new mutation; interatrial communications
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Funding
- Ministry of Health, Labour and Welfare
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We 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.
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