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学科主题: 临床医学
题名:
KCNQ1 and KCNH2 Mutations Associated with Long QT Syndrome in a Chinese Population
作者: 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
发表日期: 2002-12-01
DOI: 10.1002/humu.9085
卷: 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
所属项目编号: 30170381 ; 0051205B
项目资助者: Cardiovascular Institute ; National Natural Science Foundation of China (NNSFC) ; American Heart Association Ohio ; United Hospital, Wuhan, China
WOS记录号: WOS:000209544900005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53785
Appears in Collections:北京大学第二临床医学院_心血管内科_期刊论文

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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

Recommended Citation:
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).
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