Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

• DOI: 10.1186/s12967-018-1605-5
• Publication Date: 2018-08-30T11:27:04Z
• Authors: Chaoxia Lu; Wei Wu; Fang Liu; Kunqi Yang; Jiacheng Li; Yaping Liu; Rongrong Wang; Nuo Si; Peng Gao; Yongtai Liu; Shuyang Zhang; Xue Zhang
• Keywords: Adult; Cardiomyopathy, Dilated; Male; TTN; Polymorphism, Single Nucleotide; Ventricular Dysfunction, Left; 03 medical and health sciences; 0302 clinical medicine; Next generation sequencing; Humans; Connectin; Genetic Predisposition to Disease; Arrhythmogenic Right Ventricular Dysplasia; Cardiomyopathy, Restrictive; Myosin Heavy Chains; Research; R; Adenine Nucleotide Translocator 1; High-Throughput Nucleotide Sequencing; Cardiomyopathy, Hypertrophic; 3. Good health; Phenotype; Mutation; Medicine; Female; Cardiomyopathies; Carrier Proteins; Cardiac Myosins; Inherited cardiomyopathy

Cardiomyopathies are the most common clinical and genetic heterogeneity cardiac diseases, contribution in particular plays a major role patients with primary cardiomyopathies. The aim of this study is to investigate cases inherited cardiomyopathy (IC) for potential disease-causing mutations 64 genes reported be associated IC. A total 110 independent or families diagnosed various cardiomyopathies, including hypertrophic cardiomyopathy, dilated restrictive arrhythmogenic right ventricular left non-compaction, undefined were collected after informed consent. custom designed panel, genes, was screened using next generation sequencing on Ion Torrent PGM platform. best candidate variants verified by Sanger sequencing. 78 73 identified. After excluding predicted benign VUS, 26 pathogenic likely probands (23.6%), homozygous variant SLC25A4 gene. Of these variants, 15 have been Human Gene Mutation Database ClinVar database, while 11 novel. majority observed MYH7 (8/26) MYBPC3 (6/26) Titin (TTN) truncating account 13% our (3/23). This provides an overview aberrations cohort Chinese IC demonstrates power Genetic results can provide precise diagnosis guidance regarding medical care some individuals.