In:
Cardiology in the Young, Cambridge University Press (CUP), Vol. 19, No. 5 ( 2009-10), p. 482-485
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1047-9511
,
1467-1107
DOI:
10.1017/S1047951109990813
Language:
English
Publisher:
Cambridge University Press (CUP)
Publication Date:
2009
detail.hit.zdb_id:
2060876-7
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