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Updated: Oct 31, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy

Xiaofei Yang1,2, Zhenghao Li1, Qingfa Wang1

  • 1Department of Pediatrics, Yidu Central Hospital of Weifang, Weifang, Shandong, China.

Cardiology in the Young
|June 28, 2021
PubMed

Insights

A novel MYBPC3 gene variant (p.E911X) causes diverse hypertrophic cardiomyopathy phenotypes. Whole-exome sequencing aids in early screening and diagnosis of this genetic heart condition.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a primary genetic heart muscle disease.
  • Identifying pathogenic gene variants is crucial for understanding disease mechanisms and inheritance patterns.

Purpose of the Study:

  • To identify the pathogenic gene variant in a family with hypertrophic cardiomyopathy using whole-exome sequencing.
  • To correlate the identified gene variant with the clinical phenotypes observed in family members.

Main Methods:

  • Whole-exome sequencing (WES) was performed on DNA from a family affected by HCM.
  • Sanger sequencing confirmed the identified variant.
  • Bioinformatics tools predicted the functional impact of the variant.
  • Clinical data from family members were analyzed.

Main Results:

  • A novel heterozygous nonsense variant, MYBPC3:c.2731G > T (p.E911X), was identified in the proband.
  • The variant affects conserved amino acids and alters the MYBPC3 protein structure, including domain incompleteness and deletions.
  • Clinical data revealed diverse phenotypes among variant carriers, indicating functional protein damage.

Conclusions:

  • The novel MYBPC3 variant (p.E911X) leads to variable severity and clinical manifestations of hypertrophic cardiomyopathy.
  • Whole-exome sequencing is effective for comprehensive screening of HCM-associated genes, supporting early diagnosis and treatment strategies, particularly in children.
Abstract

Keywords:
Hypertrophic cardiomyopathyMYBPC3phenotypevariantwhole-exome sequencing

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