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A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

2004; BMJ; Volume: 41; Issue: 7 Linguagem: Inglês

10.1136/jmg.2004.018895

1468-6244

Aiko Okubo,

Genomic variations and chromosomal abnormalities

A trial septal defect (ASD) is characterised by left-toright shunting and increased right ventricular output. 1 Approximately 5-10% of congenital heart diseases (CHD) are due to ASD which is one of the most frequent CHD found in human adults. 2ASD has been presumed to be caused by genetic factors. 3 4Recently, a few genes have been implicated in syndromic and non-syndromic ASD.Mutations in T-BOX5 at 12q24.1, 5 6 NKX2.5 at 5q34, 7 8 EVC at 4p16.1, 9 and GATA4 at 8p23.1-p22 10 cause Holt-Oram syndrome with ASD or ventricular septal defect (VSD), non-syndromic CHD including ASD and atrioventricular conduction abnormalities, Ellis-van Creveld syndrome with ASD, and a familial isolated ASD, respectively.We encountered a large family of four generations where 11 members were affected with ASD, and where disease transmission was consistent with an autosomal dominant mode of inheritance.Here we report a novel mutation of GATA4 in this family.