title: Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.
abstract: 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 LQTS genes, KCNQ1 and KCNH2, by sequencing.
  
  
  RESULTS
  Two novel KCNQ1 mutations, S277L in the S5 domain and G306V in the channel pore, and two novel KCNH2 mutations, L413P in the transmembrane domain S1 and L559H in the transmembrane domain S5 were identified. The triggering factors for cardiac events developed in these mutation carriers included physical exercise and excitation. Mutation L413P in KCNH2 was associated with the notched T wave on ECGs. Mutation L559H in KCNH2 was associated with the typical bifid T wave on ECGs. Mutation S277L in KCNQ1 was associated with a high-amplitude T wave and G306V was associated with a low-amplitude T wave. Two likely polymorphisms, IVS11 + 18C > T in KCNQ1 and 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.
authors.affiliation: Department of Cardiology, the People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Wenling
authors.initials: W
authors.lastname: Liu
authors.forename: Dayi
authors.initials: D
authors.lastname: Hu
authors.forename: Cuilan
authors.initials: C
authors.lastname: Li
authors.forename: Ping
authors.initials: P
authors.lastname: Li
authors.forename: Yuntian
authors.initials: Y
authors.lastname: Li
authors.forename: Zhiming
authors.initials: Z
authors.lastname: Li
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.forename: Xuguang
authors.initials: X
authors.lastname: Qin
authors.forename: Wei
authors.initials: W
authors.lastname: Dong
authors.forename: Yu
authors.initials: Y
authors.lastname: Qi
authors.forename: Shenghan
authors.initials: S
authors.lastname: Chen
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
mesh_terms: D044466:Asian People; D027682:Cation Transport Proteins; D002681:China; D004268:DNA-Binding Proteins; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D005260:Female; D006801:Humans; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG
chemical_list: D027682:Cation Transport Proteins; D004268:DNA-Binding Proteins; C072312:ERG protein, human; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; C092509:KCNH6 protein, human; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG