Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome

• Published in: Chinese medical journal Vol. 116; no. 9; pp. 1333 - 1335
• Main Author: 刘文玲 胡大一 李翠兰 李萍 李运田 李志明 李蕾 秦绪光 董玮 戚豫 陈胜寒 王擎
• Format: Journal Article
• Language: English
• Published: China Department of Cardiology, the People's Hospital of Peking University, Beijing 100044, China%Department of Cardiology, Tongren Hospital, Beijing 100730, China%Department of Cardiology, Jiuxianqiao Hospital, Beijing 100016, China%Human Genome Center, Institute of Genetic/Genomics and Bioinformatic Institute, Chinese Academic of Sciences Beijing 101300, China%Central Laboratory of the First Hospital of Peking University, Beijing 100034, China%Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, and Center for Cardiovascular Genetics, Department of Cardiovascular Medicine, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA 01.09.2003
• Subjects: Asian Continental Ancestry Group; Cation Transport Proteins; China; DNA-Binding Proteins; ERG1 Potassium Channel; Ether-A-Go-Go Potassium Channels; Female; Humans; KCNH2基因; KCNQ Potassium Channels; KCNQ1 Potassium Channel; KCNQ1基因; Long QT Syndrome - genetics; Male; Mutation; Potassium Channels - genetics; Potassium Channels, Voltage-Gated; Trans-Activators; Transcriptional Regulator ERG; 钾离子通道; 长QT间期综合征; mutation; KCNH2 gene; long QT syndrome; KCNQ1 gene
• ISSN: 0366-6999; 2542-5641

Objective To determine mutations of two common potassium channel subunit genes KCNQ1,KCNH2 causing long QT syndrome (LQTS) in the Chinese.Methods Thirty-one Chinese LQTS pedigrees were characterized for mutations in the two LQTSgenes, KCNQ1 and KCNH2, by sequencing.Results Two novel KCNQ1 mutations, S277L in the S5 domain and G306V in the channel pore, andtwo novel KCNH2 mutations, L413P in the transmembrane domain S1 and L559H in thetransmembrane domain S5 were identified. The triggering factors for cardiac events developed in thesemutation carriers included physical exercise and excitation. Mutation L413P in KCNH2 was associatedwith the notched T wave on ECGs. Mutation L559H in KCNH2 was associated with the typical bifid Twave on ECGs. Mutation S277L in KCNQ1 was associated with a high-amplitude T wave and G306Vwas associated with a low-amplitude T wave. Two likely polymorphisms, IVS11 + 18C >T in KCNQ1and L520V in KCNH2 were also identified in two LQTS patients.Conclusions The mutation rates for both KCNQ1 (6. 4% ) and KCNH2 (6.4%) are lower in the Chinese population than those from North America or Europe.