Mutation Analysis of Three Exons of Myosin-Binding Protein C3 in Patients with Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy is a genetic disorder with a prevalence rate of 0.2% in the general population. It comes from mutations in sarcomeric proteins. Cardiac myosin-binding protein C3 is one of the critical genes in hypertrophic cardiomyopathy (HCM) and sudden cardiac death, accounting for about 20% of HCM-causing mutations. Genetic testing is recommended in patients with HCM. The aim of the current study was to find possible disease-causing mutations in 3 exons of the gene myosin-binding protein C (MYBPC3) in patients with HCM.
Fifty subjects with documented known HCM were enrolled in the study. The patients were referred to the hospitals affiliated to Tehran University of Medical Sciences between 2008 and 2011. Peripheral blood samples were collected, as well as clinical and demographic data. The nucleotide sequences of the exons number 7, 16, and 18 of MYBPC3, whose relevance to the disease was previously reported, were amplified by polymerase chain reaction. Direct DNA sequencing was applied, and the Chromas software was used to analyze the sequences to find possible disease-causing mutations.
The study population comprised 73% male and 27% female patients. The mean age of the patients was 33.9 ± 20.08 years. Family history of sudden cardiac death was reported in 48.2% of the patients. About 79% of the studied subjects had a history of at least 1 other affected relative in their families. Laboratory findings did not show mutations or any nucleotide changes in the sequences of the 3 target exons in the genomic DNA of the studied patients with HCM.
The nucleotide sequences of the exons number 7, 16, and 18 of MYBPC3 were not mutated in the 50 studied subjects with HCM.