Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death

Lin Yubi; He Siqi; Liao Zili; Feng Ruiling; Liu Ruilin; Peng Yongzheng; Yu Nan; Qi Hang; Chen Jia; Huang Zifeng; Lei Heping; Liu Yang; Rao Fang; Deng Chunyu; Xue Yumei; Zhang Guolin; Zhang Bin; Yao Hua; Wu Shulin

首页> 外文期刊>Journal of Electrocardiology: An International Publication for the Study of the Electrical Activities of the Heart >Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death

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Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death

机译：全exome测序确定了在中国家庭中的致病性突变，其具有无法解释的突然死亡

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Objective: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope.

机译：目的：本研究旨在鉴定中国家庭的致病性突变，具有无法解释的突然死亡（USD）或偶尔的晕厥。

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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2期|共7页
作者
Lin Yubi; He Siqi; Liao Zili; Feng Ruiling; Liu Ruilin; Peng Yongzheng; Yu Nan; Qi Hang; Chen Jia; Huang Zifeng; Lei Heping; Liu Yang; Rao Fang; Deng Chunyu; Xue Yumei; Zhang Guolin; Zhang Bin; Yao Hua; Wu Shulin;
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作者单位

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

Southern Med Univ Shunde Hosp Shunde Peoples R China;

Southern Med Univ Zhujiang Hosp Dept Clin Lab Guangzhou Guangdong Peoples R China;

Southern Med Univ Zhujiang Hosp Dept Clin Lab Guangzhou Guangdong Peoples R China;

Southern Med Univ Zhujiang Hosp Dept Clin Lab Guangzhou Guangdong Peoples R China;

Guangdong 2 Prov Peoples Hosp Dept Cardiol 2 Guangzhou Guangdong Peoples R China;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

South China Univ Technol Guangdong Prov Key Lab Clin Pharmacol Guangdong Gen Hosp Med Sch;

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原文格式 PDF
正文语种 eng
中图分类诊断学;
关键词
Sudden death; Ventricular tachycardia; Genetics;

机译：猝死;室性心动过速;遗传学;

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专利

1. Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death [J] . Lin Yubi, He Siqi, Liao Zili, Journal of Electrocardiology: An International Publication for the Study of the Electrical Activities of the Heart . 2018,第2期

机译：全exome测序确定了在中国家庭中的致病性突变，其具有无法解释的突然死亡
2. Whole Exome Sequencing Identified a Pathogenic Mutation in RYR2 in a Chinese Family with Unexplained Sudden Death [J] . Lin Yubi Journal of the American College of Cardiology . 2017,第16期

机译：整个exome测序鉴定了在中国家庭中的Ryr2致病性突变，具有无法解释的突然死亡
3. Whole Exome Sequencing Identified a Pathogenic Mutation in RYR2 in a Chinese Family with Unexplained Sudden Death [J] . Lin Yubi Journal of the American College of Cardiology . 2017,第16期

机译：整个exome测序鉴定了在中国家庭中的Ryr2致病性突变，具有无法解释的突然死亡
4. Whole Exome Sequencing Approach to Identify Genetic Variants Causing Sudden Unexplained Death Syndrome [C] . Seok-Hwee Koo, Paul Chui, Chee Seng Ku, Molecular Medicine TRI-CON. . 2014

机译：识别遗传变异突然未解释的死亡综合征的整体exome测序方法
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes [O] . Yubi Lin, Ting Zhao, Siqi He, 2020

机译：具有无法解释的猝死家族史的长QT综合征中KCNQ1的复合和杂合突变：通过对整个外显子组测序和易感基因的分析鉴定
7. Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death. [O] . Michael V Zaragoza, Lianna Fung, Ember Jensen, 2016

机译：外显子组测序鉴定了一种新的LmNa剪接位点突变和潜在修饰因子的多基因杂合性，具有病态窦房结综合征，扩张型心肌病和突发性心脏病死亡。

Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death

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