从人类和小鼠单基因疾病研究中洞察先天性心脏病的遗传结构。
Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.
作者信息
Prendiville Terence, Jay Patrick Y, Pu William T
机构信息
Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts 02115.
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110.
出版信息
Cold Spring Harb Perspect Med. 2014 Oct 1;4(10):a013946. doi: 10.1101/cshperspect.a013946.
Abstract
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.
摘要
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。在本综述中，我们讨论了由心脏转录因子基因NKX2-5和GATA4突变引起的单基因CHD。在小鼠和人类中对这些基因的详细研究扩展了我们对心脏发育的理解，揭示了影响CHD基因突变表达和外显率的复杂遗传和环境因素。
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