Insights into the Genetic Structure of Congenital Heart Disease from Human and Murine Studies on Monogenic Disorders

  1. William T. Pu1,3
  1. 1Department of Cardiology, Boston Children’s Hospital, Boston, Massachusetts 02115
  2. 2Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110
  3. 3Harvard Stem Cell Institute, Harvard University, Cambridge, Massachusetts 02138
  1. Correspondence: wpu{at}pulab.org

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.

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    1. doi: 10.1101/cshperspect.a013946 Cold Spring Harb Perspect Med 4: Copyright © 2014 Cold Spring Harbor Laboratory Press; all rights reserved
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