Prevalence of MYBPC3 Gene Mutations in Russian Patients with Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is considered the most common inherited heart disease. HCM is a highly heterogeneous disease from the genetic point of view. However, the cause of the disease remains unclear, despite the large number of pathogenic variants detected in more than a quarter of patients. Therefore, studying the prevalence of pathogenic variants associated with HCM especially in the Russian population is still relevant. In this context, the objective of the research survey was to assess the contribution of pathogenic variants rs200411226 and rs397515905 in the MYBPC3 gene, leading to substitutions R495Q, R495W, and R495G, to the development of HCM in the Russian population. The sample included 224 patients with HCM of varying severity. The genotypes of variants rs200411226 (NM_000256.3:c.1484G>A) and rs397515905 (NM_000256.3:c.1483C>T/G)) in the MYBPC3 gene (R495Q, R495W, and R495G) were analyzed for all the patients with real-time PCR. The survey analysis of the prevalence of these pathogenic variants has shown that the R495Q and R495W mutations in the survey sample occur with a frequency of 0.4% for each mutation, which is generally comparable with the frequencies of these pathogenic variants in the other populations. In addition, R495Q and R495W mutations do not appear to cause a severe form of the disease. Survey testing failed to identify the R495G pathogenic variant in the survey sample of HCM patients. Therefore, these mutations themselves as a cause for HCM progression do not have any significant prevalence among the Russian population.