Original article Selected mutations in the myosin binding protein C gene in the Polish population of patients with hypertrophic cardiomyopathy

Abstract

Background: Mutations in the gene of myosin binding protein C (MYBPC3) are currently considered the most frequent cause of hypertrophic cardiomyopathy (HCM). Aim: To assess the frequency of selected mutations in MYBPC3 in the Polish population of HCM patients. Methods: One hundred eighteen patients with HCM and 118 healthy, age and sex-matched controls were screened for the presence of 14 mutations of MYBPC3 using real time polymerase chain reaction. Results: Five different mutations were found in six patients in the HCM group whereas no mutations were present in the control group. In three cases the mutations were missense (Arg502Gln, Cys566Arg, Asn755Lys) and in three cases terminal (Gln425ter, Gln1061ter in two unrelated probands). Conclusion: Mutations in MYBPC3 should be considered a frequent cause of HCM in Poland.