Familial Atrial Septal Defect and Atrioventricular Conduction Disturbance Associated With a Point Mutation in the Cardiac Homeobox Gene CSX/NKX2-5 in a Japanese Patient
Year: 1999
Type: article
Study design: Case Report
Abstract: Atrial septal defect (ASD) is the most common form of congenital cardiac defect in humans. Recently, point mutations in the cardiac homeobox gene CSX/NKX2-5 have been reported to cause the autosomal dominant form of familial ASD. Notably, all the affected patients exhibit atrioventricular conduction disturbance and some of them died suddenly. The first case of familial ASD with a mutation of the CSX/NKX2-5 gene in a Japanese patient is reported here. Identification of CSX/NKX2-5 mutations in ASD patients would be very important because the existence of such mutations may predict sudden cardiac death.
DOI: 10.1253/jcj.63.425
Authors: Toru Hosoda, Issei Komuro, Ichiro Shiojima, Yukio Hiroi, Miki Harada, Yuji Murakawa, Yasunobu Hirata, Yoshio Yazaki
Institution: The University of Tokyo
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2069806012