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Updated: Apr 27, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy
Qianqian Guo1, Yuejuan Xu, Xike Wang
11 Department of Pediatric Cardiovascular, Xinhua Hospital Affiliated to Medical School of Shanghai Jiaotong University , Shanghai, People's Republic of China .
Insights
A novel mutation in the beta-myosin heavy chain (β-MHC) gene, p.G407C, was identified as the cause of hypertrophic cardiomyopathy (HCM) in a large family. This finding aids in understanding genotype-phenotype correlations for genetic counseling in HCM.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetic Diseases
Background:
- Hypertrophic cardiomyopathy (HCM) is a primary cause of sudden cardiac arrest in young individuals.
- Over 270 mutations are linked to familial HCM, with MYH7 and MYBPC3 being the most frequently implicated genes.
- Understanding the genetic basis of HCM is crucial for diagnosis and management.
Purpose of the Study:
- To identify the pathogenic mutation responsible for familial HCM in a large family.
- To investigate the functional impact of the identified mutation on the specific protein.
- To establish genotype-phenotype correlations for improved genetic counseling.
Main Methods:
- Whole exome sequencing was performed on the proband to identify potential novel mutations.
- Polymerase chain reaction and direct sequencing were used to analyze specific gene segments.
- Clinical data was collected to assess genotype-phenotype relationships.
Main Results:
- A novel mutation, p.G407C, was discovered in the beta-myosin heavy chain (MYH7) gene, identified as the cause of familial HCM in this cohort.
- The p.G407C mutation may disrupt the protein's secondary structure, although affected individuals in this family exhibited a relatively benign clinical course.
- This study provides the first detailed clinical description of the p.G407C mutation.
Conclusions:
- The identified p.G407C mutation in MYH7 is pathogenic for hypertrophic cardiomyopathy in this family.
- A strong genotype-phenotype consistency was observed, supporting the role of this mutation in HCM development.
- The findings facilitate precise genetic counseling for affected family members.
Abstract:
Hypertrophic cardiomyopathy (HCM), characterized by myocardial hypertrophy, is the most common cause of sudden cardiac arrest in young individuals. More than 270 mutations have been found to be responsible for familial HCM to date; mutations in MYH7, which encodes the β-myosin heavy chain (β-MHC) and MYBPC3, which encodes the myosin binding protein C, are seen most often. This study aimed to screen a pathogenic mutation causing HCM in a large family and assess its possible impact on the function of the specific protein. Exome sequencing was applied in the proband for searching a novel mutation; segments bearing the specific mutation were analyzed by polymerase chain reaction and direct sequencing. A novel p.G407C mutation in the β-MHC gene (MYH7) was identified to be responsible for familial HCM in this family. The mutation may cause damage to the second structure of the protein despite the fact that patients bearing the mutation may have a relatively benign prognosis in this family. The clinical details of the p.G407C mutation are described for the first time in this study. Our report shows a good genotype-phenotype consistency and makes it possible for genetic counseling in this family.
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