The analysis of MYBPC3 gene among Iranian patients with familial hypertrophic and dilated cardiomyopathy

Cardiomyopathies are a group of inherited heterogeneous cardiovascular diseases with the most prevalence among inherited cardiovascular diseases affecting myocardium. The most common types of cardiomyopathies are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) (1:500 and 1:2,500 respectively). HCM usually defined as left ventricular hypertrophy (LVH) and DCM defined by progressive left ventricular dilation and incapacitated systolic function. Their inheritance pattern is mainly autosomal dominant. MYBPC3 is one the most important sarcomere genes which is involved in HCM and DCM. Herein, we studied 23 unrelated patients with HCM and DCM, diagnosed by their medical history. We performed molecular analysis on MYBPC3 gene amplified by polymerase chain reaction (PCR) and mutation analysis was carried out by direct sequencing. The results showed four point mutations among four patients. Three of HCM cases showed c.649A> G (p.Ser217Gly), c.1591G> A (p.Gly531Arg) and c.2864_2865delCT (p. Pro955Argfs) mutations, and one DCM case revealed c.1000G> A (p.Glu334Lys) mutation located on the M-domain of the protein. This investigation revealed the importance of genetic testing of MYBPC3 gene for diagnosis. Molecular analysis would help clinicians for clinical management.

Keywords:

cardiomyopathy , hypertrophic cardiomyopathy , dilated cardiomyopathy , MYBPC3 gene