GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development

被引：2
|
作者：
Shimizu, Daisuke [1 ]
Iwashima, Satoru [2 ]
Sato, Keisuke [3 ]
Hayano, Satoshi [2 ]
Fukami, Maki [4 ]
Saitsu, Hirotomo [5 ]
Ogata, Tsutomu [1 ,4 ]
机构：
[1] Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, Japan
[2] Chutoen Gen Med Ctr, Dept Pediat, Kakegawa, Japan
[3] Shizuoka Childrens Hosp, Cardiac Intens Care Unit, Shizuoka, Japan
[4] Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan
[5] Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan
来源：
CLINICAL CASE REPORTS | 2018年 / 6卷 / 11期
关键词：
atrial septal defect; GATA4; male sex development; whole-exome sequencing;
D O I：
10.1002/ccr3.1851
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：2229 / 2233
页数：5
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