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

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

doi: 10.24272/j.issn.2095-8137.2022.463
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
  • 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.
  • 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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