RYR2 sequencing reveals novel missense mutations in a Kazakh Idiopathic ventricular tachycardia study cohort

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dc.contributor.authorAkilzhanova, Ainur
dc.contributor.authorGuelly, Christian
dc.contributor.authorNuralinov, Omirbek
dc.contributor.authorNurkina, Zhannur
dc.contributor.authorNazhat, Dinara
dc.contributor.authorSmagulov, Shalkhar
dc.contributor.authorTursunbekov, Azat
dc.contributor.authorAlzhanova, Anar
dc.contributor.authorRashbayeva, Gulzhaina
dc.contributor.authorAbdrakhmanov, Ayan
dc.contributor.authorDosmagambet, Sholpan
dc.contributor.authorTrajanoski, Slave
dc.contributor.authorZhumadilov, Zhaxybay
dc.contributor.authorSharman, Almaz
dc.contributor.authorBekbosynova, Mahabbat
dc.date.accessioned2016-02-19T04:53:29Z
dc.date.available2016-02-19T04:53:29Z
dc.date.issued2014
dc.description.abstractChannelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (,60%) in context of catecholaminergic polymorphic ventricular tachycardia (CPVT1). We tested 35 Kazakhstani patients with episodes of ventricular arrhythmia, two of those with classical CPVT characteristics and 33 patients with monomorphic idiopathic ventricular arrhythmia, for variants in the hot-spot regions of the RYR2 gene. This approach revealed two novel variants; one de-novo RYR2 mutation (c13892A.T; p.D4631V) in a CPVT patient and a novel rare variant (c5428G.C; p.V1810L) of uncertain significance in a patient with VT of idiopathic origin which we suggest represents a low-penetrance or susceptibility variant. In addition we identified a known variant previously associated with arrhythmogenic right ventricular dysplasia type2 (ARVD2). Combining sets of prediction scores and reference databases appeared fundamental to predict the pathogenic potential of novel and rare missense variants in populations where genotype data are rare.ru_RU
dc.identifier.citationAkilzhanova A, Guelly C, Nuralinov O, Nurkina Z, Nazhat D, et al. (2014) RYR2 Sequencing Reveals Novel Missense Mutations in a Kazakh Idiopathic Ventricular Tachycardia Study Cohort. PLoS ONE 9(6): e101059. doi:10.1371/journal.pone.0101059ru_RU
dc.identifier.urihttp://nur.nu.edu.kz/handle/123456789/1291
dc.language.isoenru_RU
dc.publisherPLOS ONE. doi:10.1371/journal.pone.0101059ru_RU
dc.rightsAttribution-NonCommercial-ShareAlike 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/3.0/us/*
dc.subjectRYR2 sequencingru_RU
dc.subjecthuman ryanodine receptorru_RU
dc.subjectventricular arrhythmiaru_RU
dc.subjectTachycardiaru_RU
dc.titleRYR2 sequencing reveals novel missense mutations in a Kazakh Idiopathic ventricular tachycardia study cohortru_RU
dc.typeArticleru_RU

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