Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree

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Updated: Oct 26, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

3.8K

Yan Zhang1, Yiyi Shang2, Luo Liu2

  • 1Department of Magnetic Resonance Imaging, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan Province, China.

BMC Medical Genomics
|July 31, 2021
PubMed

Insights

A genetic variant, c.3134G>A, is likely pathogenic in inherited hypertrophic cardiomyopathy (HCM). This finding aids in identifying genetic defects causing HCM, a serious heart muscle disease.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Inherited hypertrophic cardiomyopathy (HCM) is a prevalent heart muscle disease impacting cardiac function and potentially leading to sudden cardiac arrest.
  • Genetic factors are crucial in the etiology of HCM.
  • Pedigree analysis is a valuable tool for identifying disease-causing genetic defects.

Purpose of the Study:

  • To identify genetic variants associated with hypertrophic cardiomyopathy (HCM) in a Chinese pedigree.
  • To investigate the frequency and pathogenicity of a specific genetic variant in HCM patients.

Main Methods:

  • Whole-exome sequencing was employed to detect genetic variants in an HCM pedigree.
  • A TaqMan genotyping assay was used to assess the frequency of identified variants in 30 HCM patients and 200 healthy controls.

Main Results:

  • The genetic variant NM_000257.4:c.3134G>A (p.Arg1045His) was identified and cosegregated with the HCM phenotype.
  • This variant was absent in 200 healthy controls.
  • One out of 30 HCM patients carried the variant and had a family history.

Conclusions:

  • The identified c.3134G>A variant is strongly associated with the occurrence of hypertrophic cardiomyopathy.
  • According to ACMG guidelines, this variant is classified as 'Likely pathogenic'.
Abstract

Keywords:
Hypertrophic cardiomyopathyMYH7Pedigree analysisWhole-exome sequencing

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