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

Lin Yubi; Huang Jiana; Zhao Ting; He Siqi; Huang Zifeng; Chen Xiumin; Fei Hongwen; Luo Haiying; Liu Hui; Wu Shulin; Lin Xiufang

首页> 外文期刊>Journal of Electrocardiology: An International Publication for the Study of the Electrical Activities of the Heart >Compound and heterozygous mutations of DSG2 identified by Whole Exome Sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia

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

机译：具有室性心动过缓的心律源右心室心肌病/发育不良鉴定的DSG2的化合物和杂合突变

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Backgrounds: This study was designed to identify the pathogenic mutations in two Chinese families of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) using the Whole Exome Sequencing (WES).

机译：背景技术：本研究旨在使用全外壳测序（WES）鉴定两种中国患有心律源右心室心肌病/发育不良（ARVC / D）的致病性突变。

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来源
《Journal of Electrocardiology: An International Publication for the Study of the Electrical Activities of the Heart》 |2018年第5期|共7页
作者
Lin Yubi; Huang Jiana; Zhao Ting; He Siqi; Huang Zifeng; Chen Xiumin; Fei Hongwen; Luo Haiying; Liu Hui; Wu Shulin; Lin Xiufang;
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作者单位

Sun Yat Sen Univ Affiliated Hosp 5 Intervent Med Ctr Dept Cardiol &

Cardiovasc Intervent Zhuhai;

Sun Yat Sen Univ Affiliated Hosp 5 Intervent Med Ctr Dept Cardiol &

Cardiovasc Intervent Zhuhai;

Sun Yat Sen Univ Affiliated Hosp 5 Intervent Med Ctr Dept Cardiol &

Cardiovasc Intervent Zhuhai;

Sun Yat Sen Univ Affiliated Hosp 5 Intervent Med Ctr Dept Cardiol &

Cardiovasc Intervent Zhuhai;

Sun Yat Sen Univ Affiliated Hosp 5 Intervent Med Ctr Dept Cardiol &

Cardiovasc Intervent Zhuhai;

Sun Yat Sen Univ Affiliated Hosp 5 Intervent Med Ctr Dept Cardiol &

Cardiovasc Intervent Zhuhai;

Guangdong Gen Hosp Guangdong Acad Med Sci Dept Echocardiog Guangzhou 510080 Guangdong Peoples;

Guangdong Gen Hosp Guangdong Acad Med Sci Dept Radiol Guangzhou 510080 Guangdong Peoples R;

Guangdong Gen Hosp Guangdong Acad Med Sci Dept Radiol Guangzhou 510080 Guangdong Peoples R;

South China Univ Technol Guangdong Acad Med Sci Guangdong Prov Key Lab Clin Pharmacol Guangdong;

Sun Yat Sen Univ Affiliated Hosp 5 Intervent Med Ctr Dept Cardiol &

Cardiovasc Intervent Zhuhai;

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原文格式 PDF
正文语种 eng
中图分类诊断学;
关键词
Arrhythmogenic right ventricular cardiomyopathy; Desmoglein-2; Genetic; Ventricular arrhythmia;

机译：心血病性右心室心肌病;Desmoglein-2;遗传学;室性心律失常;

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专利

1. Compound and heterozygous mutations of DSG2 identified by Whole Exome Sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia [J] . Lin Yubi, Huang Jiana, Zhao Ting, Journal of Electrocardiology: An International Publication for the Study of the Electrical Activities of the Heart . 2018,第5期

机译：具有室性心动过缓的心律源右心室心肌病/发育不良鉴定的DSG2的化合物和杂合突变
2. Whole-exome sequencing identifies a novelmutation of DSG2 (Y198C) in a Chinese arrhythmogenic right ventricular cardiomyopathy patient [J] . Xiang Rong, Fan Liang-Liang, Huang Hao, International Journal of Cardiology . 2016,第Null期

机译：全外显子组测序鉴定了中国心律失常性右室心肌病患者的DSG2（Y198C）的新型突变
3. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. [J] . Cox MG, van der Zwaag PA, van der Werf C, Circulation: An Official Journal of the American Heart Association . 2011,第23期

机译：心律失常性右室发育不良/心肌病：索引患者中的致病性桥粒突变可预测家庭筛查的结果：荷兰心律失常性右室发育不良/心肌病基因型-表型随访研究。
4. Arrhythmogenic right ventricular dysplasia/ cardiomyopathy: novel insights in a life-threatening disorder [C] . Brun F, Taylor, Barnes C, World Congress on Heart Disease . 2011

机译：心血病性右心室发育不良/心肌病：在危及生命的疾病中的新洞察力
5. The characteristics of monomorphic ventricular tachycardia, polymorphic ventricular tachycardia, and ventricular fibrillation as analyzed by linear and nonlinear methods. [D] . Yang, Shiow-Ying. 2002

机译：通过线性和非线性方法分析单形性室性心动过速，多形性室性心动过速和室颤的特征。
6. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Probably Caused by DSG2 p.Val149Ile Mutation as Genetic Background When Carrying with Heterozygous PRRT2 p.Arg217ProfsTer8 Mutation: A Case Report [O] . Rui Huang, YinHua Luo, Jingbo Zhao, 2021

机译：心律源右心室心肌病（ARVC）可能由DSG2 P.VAL149ILE突变引起当携带杂合PRRT2 P.ARG217Profster8突变时作为遗传背景引起的：案例报告
7. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Pathogenic Desmosome Mutations in Index-Patients Predict Outcome of Family Screening:Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Genotype-Phenotype Follow-Up Study [O] . Cox, Moniek G. P. J., van der Zwaag, Paul A., van der Werf, Christian, 2011

机译：心律失常性右心室发育不良/心肌病患者的病原性桥粒突变可预测家庭筛查的结果：荷兰心律失常性右心室发育不良/心肌病基因型-表型随访研究

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

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