The MYH7 p.R787H mutation causes hypertrophic cardiomyopathy in two unrelated families.

ABSTRACT:

Background

Familial hypertrophic cardiomyopathy (FHC) is a Mendelian disorder usually caused by mutations in any one of more than 12 genes, most of which encode sarcomere proteins. The disease exhibits extensive genetic heterogeneity, and it is important to identify mutations that result in adverse symptoms and/or lethality in affected individuals. An analysis of disease-causing mutations has been initiated in the Indian population to determine prevalent mutations.

Methods

FHC was detected using echocardiography and by analysis of clinical symptoms and family history. The disease-causing mutation was identified using polymerase chain reaction DNA sequencing.

Results

The p.R787H mutation was identified in the MYH7 gene in two FHC families. Sequence and structure analys

SUBMITTER: Purushotham G 

PROVIDER: S-EPMC2907879 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature