Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy

European Journal of Medical Genetics
Xiujuan ZhouBing Yang

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiomyopathy that primarily involves the right ventricle. Mutations in desmosomal genes have been associated with ARVC. But its prevalence and spectrum are much less defined in the Chinese population, especially Han Chinese, a majority ethnic group in China; also the genotype-phenotype correlation regarding left ventricular involvement is still poorly understood. The aim of this study was to elucidate the genotype in Han Chinese patients with ARVC and the phenotype regarding cardiac left ventricle involvement in mutation carriers of ARVC. 48 Han Chinese patients were recruited into the present study based on the Original International Task Force Criteria of ARVC. Clinical data were reassessed according to the modified criteria published in 2010. A total of 36 subjects were diagnosed with ARVC; 12 patients were diagnosed with suspected ARVC. Five desmosomal genes (PKP2, DSG2, DSP, DSC2 and JUP) were sequenced directly from genomic DNA. Among the 36 patients, 21 mutations, 12 of which novel, were discovered in 19 individuals (19 of 36, 53%). The distribution of the mutations was 25% in PKP2, 14% in DSP, 11% in DSG2, 6% in JUP, and 3% in DSC2. Multiple mutations were id...Continue Reading

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Citations

Oct 30, 2016·Clinical Medicine Insights. Cardiology·Josef Finsterer, Claudia Stöllberger
Sep 16, 2017·Circulation Research·Domenico CorradoDaniel P Judge
Sep 1, 2018·Journal of Arrhythmia·Yongkeun Cho
Oct 6, 2018·Heart Failure Reviews·Guangze ZhaoDecheng Yang
Dec 19, 2020·Chronic Diseases and Translational Medicine·Tian-Rui Hua, Shu-Yang Zhang

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