Rare mutations V453X and Y847X in MYBPC3 gene do not lead to severe form of hypertrophic cardiomyopathy in Russian population

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Introduction. Mutations in the MYBPC3 gene are currently believed to lead to the development of hypertrophic cardiomyopathy (HCM) in majority of genetically determined cases. However, despite many years of research, both in the world and in Russia, the genetic landscape of HCM is still insufficiently studied. Moreover, insufficient study of genetically determined cases of HCM in the Russian population does not allow us to investigate the possible connection of the phenotypic characteristics of patients with HCM with certain pathogenic variants of the genome of these patients. In this regard, the purpose of our work was to study the prevalence of rare pathogenic variants rs730880711 and rs397515974 in the MYBPC3 gene in patients with HCM from Russia and to assess the impact of these mutations on the severity of this disease. Material and methods. The sample included 180 patients with moderate HCM and 137 patients with severe HCM. Analysis of the genotypes of the rs730880711 (NC_000011.10:g.47342928_47342929insG; V453X) and rs397515974 (NC_000011.10:g.47337452G>C; Y847X) variants in the MYBPC3 gene was carried out in genomic DNA samples, isolated from peripheral blood, using real-time PCR. Results and discussion. An analysis of the prevalence of rare pathogenic variants rs730880711 and rs397515974 in the MYBPC3 gene in patients with moderate and severe forms of HCM from Russia showed that the frequency of each mutation was 0.003. Both pathogenic variants were identified in individuals with moderate disease. Conclusion. Thus, these mutations are extremely rare in patients with HCM from Russia and do not make a significant contribution to the development of this disease in the Russian population.

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