Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.

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 famili

SUBMITTER: Guo Q 

PROVIDER: S-EPMC4180301 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature