Open AccessGATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development
Author(s) -
Shimizu Daisuke,
Iwashima Satoru,
Sato Keisuke,
Hayano Satoshi,
Fukami Maki,
Saitsu Hirotomo,
Ogata Tsutomu
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1851
Subject(s) - medicine , gata4 , exome sequencing , heart disease , cardiology , genetics , mutation , gene , biology , gene expression
Key Clinical Message We identified a heterozygous p.(R284H) variant of GATA4 in a Japanese family with atrial septal defect, including boys with apparently normal male sex development. The findings, together with the previous data, imply that GATA4 variants primarily cause congenital heart disease and rarely result in 46,XY disorder of sex development.