Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders

Terence Prendiville, Patrick Y. Jay, William T. Pu

Research output: Contribution to journalArticle

21 Scopus citations

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 andGATA4. 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.

Original languageEnglish
JournalCold Spring Harbor perspectives in medicine
Volume4
Issue number10
DOIs
StatePublished - Jan 1 2014

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