Insights into the genetic architecture of congenital heart disease from animal modeling

Wenjuan Zhu; Cecilia W. Lo

doi:10.24272/j.issn.2095-8137.2022.463

Volume 44 Issue 3

May 2023

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Wenjuan Zhu, Cecilia W. Lo. Insights into the genetic architecture of congenital heart disease from animal modeling. Zoological Research, 2023, 44(3): 577-590. doi: 10.24272/j.issn.2095-8137.2022.463

Citation:

Wenjuan Zhu, Cecilia W. Lo. Insights into the genetic architecture of congenital heart disease from animal modeling. Zoological Research, 2023, 44(3): 577-590. doi: 10.24272/j.issn.2095-8137.2022.463

Wenjuan Zhu, Cecilia W. Lo. Insights into the genetic architecture of congenital heart disease from animal modeling. Zoological Research, 2023, 44(3): 577-590. doi: 10.24272/j.issn.2095-8137.2022.463

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Insights into the genetic architecture of congenital heart disease from animal modeling

doi: 10.24272/j.issn.2095-8137.2022.463

Wenjuan Zhu^{1, 3},
Cecilia W. Lo^{2
,
,}

1.
The Chinese University of Hong Kong, Hong Kong SAR, China
2.
Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15201 USA
3.
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

The authors declare that they have no competing interests.
W.Z. and C.W.L. conceived the project and jointly wrote the manuscript. All authors read and approved the final version of the manuscript.

Funds: This study was supported by NIH grants HL132024 and HL142788

More Information

Corresponding author: E-mail: cel36@pitt.edu
Received Date: 2022-01-22
Accepted Date: 2023-04-28

Published Online: 2023-05-04

Publish Date: 2023-05-18

Abstract

Abstract

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 disease,
- Genetic modifier,
- Single cell sequencing,
- De novo mutation,
- Protective variant,
- Common copy number variant

The authors declare that they have no competing interests.
W.Z. and C.W.L. conceived the project and jointly wrote the manuscript. All authors read and approved the final version of the manuscript.

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References(89)

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