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Insights into the genetic architecture of congenital heart disease from animal modeling
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Congenital heart disease (CHD) is observed in up to 1％ of live births and is one of the leading causes of mortality from birth defects. While hundreds of genes have been implicated in the genetic etiology of CHD, their role in CHD pathogenesis is still poorly understood. This is largely a reflection of the sporadic nature of CHD, as well as its variable expressivity and incomplete penetrance. We reviewed the monogenic causes and evidence for oligogenic etiology of CHD, as well as the role of de novo mutations, common variants, and genetic modifiers. For further mechanistic insight, we leveraged single-cell data across species to investigate the cellular expression characteristics of genes implicated in CHD in developing human and mouse embryonic hearts. Understanding the genetic etiology of CHD may enable the application of precision medicine and prenatal diagnosis, thereby facilitating early intervention to improve outcomes for patients with CHD.
Congenital heart diseaseGenetic modifierSingle cell sequencingDe novo mutationProtective variantCommon copy number variant
Wenjuan Zhu、Cecilia W.Lo
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The Chinese University of Hong Kong,Hong Kong SAR,China
Kunming Institute of Zoology-The Chinese University of Hong Kong(KIZ-CUHK)Joint Laboratory of Bioresources and Molecular Research of Common Diseases,Hong Kong SAR,China
Department of Developmental Biology,University of Pittsburgh School of Medicine,Pittsburgh,PA,15201 USA
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