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学科主题临床医学
KCNQ1 and KCNH2 Mutations Associated with Long QT Syndrome in a Chinese Population
Liu, Wenling1; Yang, Junguo2,3; Hu, Dayi1; Kang, Cailian2,3; Li, Cuilan1; Zhang, Shuoyan2,3; Li, Ping1; Chen, Zhijian2,3; Qin, Xuguang4; Ying, Kang5; Li, Yuntian1; Li, Yushu2,3; Li, Zhiming1; Cheng, Xin6,7,8; Li, Lei1; Qi, Yu9; Chen, Shenghan10,11; Wang, Qing10,11
关键词Long Qt Syndrome Lqts Cardiac Arrhythmia Kcnq1 Kvlqt1 Kcnh2 Herg
刊名HUMAN MUTATION
2002-12-01
DOI10.1002/humu.9085
20期:6
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
英文摘要

The long QT syndrome (LQTS) is a cardiac disorder characterized by prolongation of the QT interval on electrocardiograms (ECGs), syncope and sudden death caused by a specific ventricular tachyarrhythmia known as torsade de pointes. LQTS is caused by mutations in ion channel genes including the cardiac sodium channel gene SCN5A, and potassium channel subunit genes KCNQ1, KCNH2, KCNE1, and KCNE2. Little information is available about LQTS mutations in the Chinese population. In this study, we characterized 42 Chinese LQTS families for mutations in the two most common LQTS genes, KCNQ1 and KCNH2. We report here the identification of four novel KCNQ1 mutations and three novel KCNH2 mutations. The KCNQ1 mutations include L191P in the S2-S3 cytoplasmic loop, F275S and S277L in the S5 transmembrane domain, and G306V in the channel pore. The KCNH2 mutations include L413P in transmembrane domain S1, E444D in the extracellular loop between S1 and S2, and L559H in domain S5. The location and character of these mutations expand the spectrum of KCNQ1 and KCNH2 mutations causing LQTS. Excitement, exercises, and stress appear to be the triggers for developing cardiac events (syncope, sudden death) for LQTS patients with KCNQ1 mutations F275S, S277L, and G306V, and all three KCNH2 mutations L413P, E444D and L559H. In contrast, cardiac events for an LQTS patient with KCNQ1 mutation L191P occurred during sleep or awakening from sleep. KCNH2 mutations L413P and L559H are associated with the bifid T waves on ECGs. Inderal or propanolol (a beta blocker) appears to be effective in preventing arrhythmias and syncope for an LQTS patient with the KCNQ1 L191P mutation. (C) 2002 Wiley-Liss, Inc.

语种英语
WOS记录号WOS:000209544900005
引用统计
被引频次:12[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53785
专题北京大学医学部管理机构_医学部
北京大学第二临床医学院_心血管内科
作者单位1.Peking Univ, Peoples Hosp, Div Cardiol, Beijing 100044, Peoples R China
2.Huazhong Univ Sci & Technol, Cardiovasc Inst, Wuhan 430022, Hubei, Peoples R China
3.Huazhong Univ Sci & Technol, United Hosp, Wuhan 430022, Hubei, Peoples R China
4.Jiuxianqiao Hosp, Div Cardiol, Beijing, Peoples R China
5.Fudan Univ, Genet Engn Lab, Shanghan, Peoples R China
6.PUMC, Beijing, Peoples R China
7.Peking Univ, Hosp 1, Cent Lab, Beijing 100044, Peoples R China
8.CAMS, Cardiovasc Inst, Beijing, Peoples R China
9.CAMS, Fu Wai Hosp, Beijing, Peoples R China
10.Cleveland Clin Fdn, Lerner Res Inst, Dept Mol Cardiol, Ctr Mol Genet, Cleveland, OH 44195 USA
11.Cleveland Clin Fdn, Dept Cardiovasc Med, Ctr Cardiovasc Genet, Cleveland, OH 44195 USA
推荐引用方式
GB/T 7714
Liu, Wenling,Yang, Junguo,Hu, Dayi,et al. KCNQ1 and KCNH2 Mutations Associated with Long QT Syndrome in a Chinese Population[J]. HUMAN MUTATION,2002,20(6).
APA Liu, Wenling.,Yang, Junguo.,Hu, Dayi.,Kang, Cailian.,Li, Cuilan.,...&Wang, Qing.(2002).KCNQ1 and KCNH2 Mutations Associated with Long QT Syndrome in a Chinese Population.HUMAN MUTATION,20(6).
MLA Liu, Wenling,et al."KCNQ1 and KCNH2 Mutations Associated with Long QT Syndrome in a Chinese Population".HUMAN MUTATION 20.6(2002).
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