Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles
| Autor: | Siqi He, Zhe Xu, Shuxia Wang, Shulin Wu, Yubi Lin, Qianhuan Zhang, Yang Liu, Chunyu Deng, Yumei Xue, Xianzhang Zhan, Zhixin Shan, Feng Wang, Hongtao Liao, Jiajun Xie, Fang Rao, Hai Deng, Wanqun Chen, Bin Zhang, Hongmei Wu, Xin Li, Zhi An Zhong, Jiaojiao Tang, Hui Liu, Zili Liao |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine Proband Adolescent Cardiomyopathy 030204 cardiovascular system & hematology medicine.disease_cause Polymorphism Single Nucleotide Electrocardiography Young Adult 03 medical and health sciences symbols.namesake 0302 clinical medicine Asian People Gene Frequency medicine Humans Missense mutation Pharmacology (medical) Indel Allele frequency Arrhythmogenic Right Ventricular Dysplasia Whole genome sequencing Sanger sequencing Mutation Desmoglein 2 Whole Genome Sequencing business.industry Myocardium Middle Aged medicine.disease Magnetic Resonance Imaging Molecular biology 030104 developmental biology Echocardiography symbols Cardiology and Cardiovascular Medicine business |
| Zdroj: | Cardiology. 138:41-54 |
| ISSN: | 1421-9751 0008-6312 |
| DOI: | 10.1159/000462962 |
| Popis: | Background: This study was designed to identify the pathogenic mutation in a Chinese family with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) using whole genome sequencing (WGS). Methods and Results: Probands II:1 and II:2 underwent routine examinations for diagnosis. Genomic DNA was extracted from the peripheral blood of family members and analyzed using WGS. A total of 60,285 single-nucleotide polymorphisms (SNP) and 13,918 insertions/deletions (InDel) occurring in the exonic regions of genes and predisposing to cardiomyopathies and arrhythmias were identified. When filtered using the 1000 Genomes Project (2014 version), NHLBI ESP6500, and ExAC databases, 12 missense SNP and 2 InDel in exonic regions remained, the allele frequencies of which were Conclusions: A homozygous mutation of DSG2 p.F531C was identified as the pathogenic mutation in patients with ARVC/D involving both ventricles, as a result of widened and impaired intercalated discs, interrupted myocardial fibers, and abnormally hyperplastic interstitial fibers, collagen fibers, and adipocytes. |
| Databáze: | OpenAIRE |
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