Insights into the Genetic Structure of Congenital Heart Disease from Human and Murine Studies on Monogenic Disorders
Insights into the Genetic Structure of Congenital Heart Disease from Human and Murine Studies on Monogenic Disorders
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DOI：
10.1101/cshperspect.a013946
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发表时间：
2014-10-01
影响因子：
5.4
通讯作者：
Pu, William T.
中科院分区：
文献类型：
--
作者：
Prendiville, Terence;Jay, Patrick Y.;Pu, William T.
单基因先天性心脏病（CHD）的研究为深入了解心脏发育和CHD的分子发病机制提供了切入点。本文就心脏转录因子基因NKX 2 -5和GATA 4突变引起的单基因CHD进行综述。在小鼠和人类中对这些基因的详细研究扩大了我们对心脏发育的理解，揭示了影响CHD基因突变表达和突变率的复杂遗传和环境因素。
Study of monogenic congenital heart disease (CHD) has provided entry points to gain new understanding of heart development and the molecular pathogenesis of CHD. In this review, we discuss monogenic CHD caused by mutations of the cardiac transcription factor genes NKX2-5 and GATA4. Detailed investigation of these genes in mice and humans has expanded our understanding of heart development, shedding light on the complex genetic and environmental factors that influence expression and penetrance of CHD gene mutations.