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X-linked BCOR variants identified in Chinese Han patients with congenital heart disease

Mei-Jiao Suo1,2,3, Wei-Cheng Chen1,2,3, Zi-Qing Xu1,2,3

  • 1Children's Hospital of Fudan University, Shanghai, China.

The Journal of Gene Medicine
|October 31, 2022
PubMed

Insights

Genetic variants in the BCOR gene are linked to congenital heart disease (CHD) in the Chinese Han population. This research highlights BCOR as a potential genetic factor contributing to CHD development.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Congenital heart disease (CHD) is a complex condition with genetic underpinnings in about one-third of cases.
  • The X-linked BCOR gene, crucial for heart development, has been implicated, but its role in CHD etiology requires further study.

Purpose of the Study:

  • To investigate the association between BCOR gene variants and congenital heart disease (CHD).
  • To explore the functional impact of identified BCOR mutations on protein function and signaling pathways relevant to heart development.

Main Methods:

  • Whole exome sequencing in CHD families to identify candidate genes.
  • Targeted DNA sequencing of BCOR and association analysis with CHD risk.
  • In vitro functional assays to assess the effects of BCOR variants on protein localization, interaction, and cellular pathways.

Main Results:

  • Identified two novel BCOR hemizygous missense variants (p.Pro483Leu and p.Arg540Gln) in CHD patients with heterotaxy.
  • The p.Pro483Leu variant disrupted BCOR's subcellular localization and BCL6 interaction, promoting cell proliferation.
  • Down-regulation of BCOR enhanced MAPK and PI3K-AKT signaling pathways; nine damaging BCOR variants were found in sporadic CHD cases.

Conclusions:

  • BCOR gene variants may predispose individuals to congenital heart disease (CHD) in the Chinese Han population.
  • These findings suggest BCOR as a potential genetic factor in CHD etiology, particularly in cases with septal defects.
Abstract

Keywords:
BCL6BCORcongenital heart diseasegenetic variant

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