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Article

Whole-exome sequencing identifies a novel mutation of DSG2 (Y198C) in a Chinese arrhythmogenic right ventricular cardiomyopathy patient.

International journal of cardiology - 1 Jul 2016

Xiang Rong, Fan Liang-Liang, Huang Hao, Zhao Shui-Ping, Chen Ya-Qin

Abstract excerpt

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Topics

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Share to Arrhythmogenic Right Ventricular Dysplasia
Share to Asian People
Share to Desmoglein 2
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Mutation

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 27055156
DOI: 10.1016/j.ijcard.2016.03.136

Genes

DSG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Whole-exome sequencing identifies a novel mutation of DSG2 (Y198C) in a Chinese arrhythmogenic right ventricular cardiomyopathy patient.PMID 27055156Read ↗

Compound and heterozygous mutations of DSG2 identified by Whole Exome Sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia.Semantic proximity Read ↗

Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles.Semantic proximity Read ↗

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.Semantic proximity Read ↗

Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.Semantic proximity Read ↗

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.Semantic proximity Read ↗

Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy.Semantic proximity Read ↗

Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant.Semantic proximity Read ↗

Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.Semantic proximity Read ↗

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.Semantic proximity Read ↗

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.Semantic proximity Read ↗

Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Clinical features and outcome of arrhythmogenic cardiomyopathy because of a desmoglein-2 founder variant: A multicenter study.Semantic proximity Read ↗

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