NKX2.5 mutations and congenital heart disease: Is it a marker of cardiac anomalies?

被引：23
|
作者：
Balci, Mustafa M. [1 ]
Akdemir, Ramazan [1 ]
机构：
[1] Diskapi Res & Educ Hosp, Dept Cardiol, Ankara, Turkey
来源：
INTERNATIONAL JOURNAL OF CARDIOLOGY | 2011年 / 147卷 / 03期
关键词：
NKX; 2.5; mutation; Congenital heart disease; Genetic counseling; HOMEOBOX GENES; GATA4; EXPRESSION; DEFECTS; DHAND; CSX;
D O I：
10.1016/j.ijcard.2009.01.024
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Congenital heart defects (CHD) are the leading cause of morbidity and mortality in infants, the etiology of most CHD remains unknown, with the influence of genetics still topic of debate. Heterozygous mutations in the transcription factor, NKX2.5, were among the first evidence of genetic cause for congenital heart disease. For the prevention of CHD identification of specific genetic causes for congenital cardiac malformations will provide insight into the developmental mechanisms that result in normal and abnormal cardiac development and will allow for improved family counseling. (C) 2009 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码：E44 / E45
页数：2
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