Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

Journal of Translational Medicine
Chao-Xia LuXue Zhang

Abstract

Cardiomyopathies are the most common clinical and genetic heterogeneity cardiac diseases, and genetic contribution in particular plays a major role in patients with primary cardiomyopathies. The aim of this study is to investigate cases of inherited cardiomyopathy (IC) for potential disease-causing mutations in 64 genes reported to be associated with IC. A total of 110 independent cases or families diagnosed with various primary cardiomyopathies, including hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, left ventricular non-compaction, and undefined cardiomyopathy, were collected after informed consent. A custom designed panel, including 64 genes, was screened using next generation sequencing on the Ion Torrent PGM platform. The best candidate disease-causing variants were verified by Sanger sequencing. A total of 78 variants in 73 patients were identified. After excluding the variants predicted to be benign and VUS, 26 pathogenic or likely pathogenic variants were verified in 26 probands (23.6%), including a homozygous variant in the SLC25A4 gene. Of these variants, 15 have been reported in the Human Gene Mutation Database or ClinVar database, wh...Continue Reading

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Citations

Sep 17, 2020·International Journal of Molecular Sciences·Ferdinando BarrettaCristina Mazzaccara
Oct 6, 2020·Cardiology in the Young·Rania K DarwishDina A Mehaney
Nov 13, 2020·Journal of Muscle Research and Cell Motility·Tyler R ReinosoHanna J Tadros
Dec 19, 2020·Chronic Diseases and Translational Medicine·Tian-Rui Hua, Shu-Yang Zhang
Mar 5, 2019·Biochimica Et Biophysica Acta. Molecular Cell Research·Antonia T L ZechLucie Carrier
Jul 17, 2021·The American Journal of the Medical Sciences·Yan XiaoWei-Xian Yang

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Methods Mentioned

BETA
exome sequencing
chip
biopsy
PCR

Software Mentioned

Ion Genome Machine PGM
Ion AmpliSeq designer
Polyphen2
Ion Torrent Suite
Ion OneTouch ES
PGM
Ampliseq

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