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Updated: Jan 14, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency

Yuanyuan Zhang1, Wenyan Gong2, Yusheng Cong3

  • 1Department of Cardiovascular Ultrasonic Center, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Plos One
|October 24, 2025
PubMed

Insights

A new MYBPC3 gene mutation, c.1042_1043insCGGCA, causes familial hypertrophic cardiomyopathy (HCM). This genetic variant leads to reduced cardiac myosin-binding protein C (cMyBP-C) levels, contributing to HCM development.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Diseases

Background:

  • Familial hypertrophic cardiomyopathy (HCM) is a prevalent genetic cardiovascular disease.
  • The precise genetic mutations causing HCM hypercontractility and impaired relaxation remain incompletely understood.

Purpose of the Study:

  • To identify and confirm a novel variant in the cardiac myosin-binding protein C (cMyBP-C) gene (MYBPC3) within an HCM-affected family.
  • To investigate the functional consequences of the identified MYBPC3 variant.

Main Methods:

  • Pedigree analysis and clinical data collection.
  • DNA extraction and next-generation sequencing for mutation identification.
  • Quantitative gene expression (RT-qPCR) and protein level analysis (Western blot) of MYBPC3 and cMyBP-C.

Main Results:

  • A novel mutation, c.1042_1043insCGGCA, was identified in the MYBPC3 gene in HCM patients and family members.
  • In silico analysis predicted the mutation leads to a premature stop codon and altered protein sequence.
  • Significantly reduced MYBPC3 mRNA and cMyBP-C protein expression were observed in HCM hearts compared to controls.

Conclusions:

  • The c.1042_1043insCGGCA mutation in MYBPC3 is a newly identified genetic cause of HCM.
  • This mutation results in c-MyBP-C haploinsufficiency, contributing to the pathogenesis of HCM.
Abstract

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