Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing

International Journal of Molecular Medicine
Yue ZhaoXueshan Xia

Abstract

Hypertrophic cardiomyopathy (HCM), one of the most common forms of myocardial diseases, is the major cause of sudden cardiac death in young adults and competitive athletes. Analyses of gene mutations associated with HCM are valuable for its molecular diagnosis, genetic counseling, and management of familial HCM. To dissect the relationship between the clinical presentation and gene mutations of HCM, the genetic characterizations of 19 HCM-related genes in 18 patients (8 cases from 6 pedigrees with familial HCM and 10 cases without familial HCM) were detected using next-generation sequencing (NGS). As a result, 12 disease-related mutations were identified in the 18 subjects, including 6 single mutations and 3 double mutations [MYBPC3 (p.Gln998Glu) plus TNNI3 (p.Arg145Gly), PRKAG2 (p.Gly100Ser) plus MYBPC3 (p.Lys1209Serfs*28) and TNNI3 (p.Glu124Gln) plus GLA (p.Trp47*)]. The 3 heterozygous double mutations were discovered for the first time in the malignant familial HCM patients. Of the 6 single mutations, a novel mutation was found in tafazzin (TAZ, p.Ile208Val), and a mutation in β-myosin heavy chain gene (MYH7, p.Arg54Gln), which was reported as rare in the general population, was firstly found in one HCM patient. Identificati...Continue Reading

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Citations

Mar 17, 2020·Current Protocols in Human Genetics·Junyu ZhangJun Shen
Feb 25, 2018·Aging·Francesco SessaMonica Salerno
Jul 17, 2019·Circulation Journal : Official Journal of the Japanese Circulation Society·Minh Thu Tran VuThuy Duong Ho Huynh
Nov 17, 2019·The Journal of Pediatrics·Paighton C MillerColin K L Phoon

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