Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy

Abstract Background Hypertrophic cardiomyopathy (HCM), described as the presence of hypertrophy of left ventricular, is the most prevalent heritable cardiovascular disease with predominantly an autosomal dominant type of inheritance. However, pathogenic alleles are not identified in at least 25% of...

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Autores principales:	Elena V. Filatova, Natalia S. Krylova, Ivan N. Vlasov, Maria S. Maslova, Natalia G. Poteshkina, Petr A. Slominsky, Maria I. Shadrina
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	exome genetics hypertrophic cardiomyopathy next generation sequencing pathogenic variants Genetics QH426-470
Acceso en línea:	https://doaj.org/article/2e3c0cb32a2d42dabacb2b2e3626ff14
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spelling	oai:doaj.org-article:2e3c0cb32a2d42dabacb2b2e3626ff142021-11-21T19:38:53ZTargeted exome analysis of Russian patients with hypertrophic cardiomyopathy2324-926910.1002/mgg3.1808https://doaj.org/article/2e3c0cb32a2d42dabacb2b2e3626ff142021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1808https://doaj.org/toc/2324-9269Abstract Background Hypertrophic cardiomyopathy (HCM), described as the presence of hypertrophy of left ventricular, is the most prevalent heritable cardiovascular disease with predominantly an autosomal dominant type of inheritance. However, pathogenic alleles are not identified in at least 25% of patients with HCM, and the spectrum of pathogenic variants that contribute to the development of HCM in Russia has not been fully described. Therefore, the goal of our study was to identify genetic variants associated with the etiopathogenesis of HCM in Russian patients. Methods The study cohort included 98 unrelated adult patients with HCM. We performed targeted exome sequencing, an analysis using various algorithms for prediction of the impact of variants on protein structure and the prediction of pathogenicity using ACMG Guidelines. Results The frequency of pathogenic and likely pathogenic variants in all HCM‐related genes was 8% in our patients. We also identified 20 variants of uncertain significance in all HCM‐related genes. Conclusions The prevalence of individual pathogenic variants in HCM‐related genes in Russian population appears to be lower than in general European population, which could be explained by ethnic features of Russian population, age characteristics of our sample, or unidentified pathogenic variants in genes previously not linked with HCM.Elena V. FilatovaNatalia S. KrylovaIvan N. VlasovMaria S. MaslovaNatalia G. PoteshkinaPetr A. SlominskyMaria I. ShadrinaWileyarticleexomegeneticshypertrophic cardiomyopathynext generation sequencingpathogenic variantsGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	exome genetics hypertrophic cardiomyopathy next generation sequencing pathogenic variants Genetics QH426-470
spellingShingle	exome genetics hypertrophic cardiomyopathy next generation sequencing pathogenic variants Genetics QH426-470 Elena V. Filatova Natalia S. Krylova Ivan N. Vlasov Maria S. Maslova Natalia G. Poteshkina Petr A. Slominsky Maria I. Shadrina Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
description	Abstract Background Hypertrophic cardiomyopathy (HCM), described as the presence of hypertrophy of left ventricular, is the most prevalent heritable cardiovascular disease with predominantly an autosomal dominant type of inheritance. However, pathogenic alleles are not identified in at least 25% of patients with HCM, and the spectrum of pathogenic variants that contribute to the development of HCM in Russia has not been fully described. Therefore, the goal of our study was to identify genetic variants associated with the etiopathogenesis of HCM in Russian patients. Methods The study cohort included 98 unrelated adult patients with HCM. We performed targeted exome sequencing, an analysis using various algorithms for prediction of the impact of variants on protein structure and the prediction of pathogenicity using ACMG Guidelines. Results The frequency of pathogenic and likely pathogenic variants in all HCM‐related genes was 8% in our patients. We also identified 20 variants of uncertain significance in all HCM‐related genes. Conclusions The prevalence of individual pathogenic variants in HCM‐related genes in Russian population appears to be lower than in general European population, which could be explained by ethnic features of Russian population, age characteristics of our sample, or unidentified pathogenic variants in genes previously not linked with HCM.
format	article
author	Elena V. Filatova Natalia S. Krylova Ivan N. Vlasov Maria S. Maslova Natalia G. Poteshkina Petr A. Slominsky Maria I. Shadrina
author_facet	Elena V. Filatova Natalia S. Krylova Ivan N. Vlasov Maria S. Maslova Natalia G. Poteshkina Petr A. Slominsky Maria I. Shadrina
author_sort	Elena V. Filatova
title	Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
title_short	Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
title_full	Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
title_fullStr	Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
title_full_unstemmed	Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
title_sort	targeted exome analysis of russian patients with hypertrophic cardiomyopathy
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/2e3c0cb32a2d42dabacb2b2e3626ff14
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Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy

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