Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family.
- Author:
Seok-Hwee KOO
1
;
Wee-Siong TEO
;
Chi-Keong CHING
;
Soh-Ha CHAN
;
Edmund J D LEE
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Child; DNA Mutational Analysis; ERG1 Potassium Channel; Ether-A-Go-Go Potassium Channels; analysis; genetics; Female; Frameshift Mutation; Humans; KCNQ1 Potassium Channel; analysis; genetics; Long QT Syndrome; genetics; Male; Middle Aged; Muscle Proteins; analysis; genetics; NAV1.5 Voltage-Gated Sodium Channel; Polymorphism, Genetic; genetics; Potassium Channels, Voltage-Gated; analysis; genetics; Sodium Channels; analysis; genetics; Trans-Activators
- From:Annals of the Academy of Medicine, Singapore 2007;36(6):394-398
- CountrySingapore
- Language:English
-
Abstract:
INTRODUCTIONLong QT syndrome (LQTS), an inherited cardiac arrhythmia, is a disorder of ventricular repolarisation characterised by electrocardiographic abnormalities and the onset of torsades de pointes leading to syncope and sudden death. Genetic polymorphisms in 5 well-characterised cardiac ion channel genes have been identified to be responsible for the disorder. The aim of this study is to identify disease-causing mutations in these candidate genes in a LQTS family.
MATERIALS AND METHODSThe present study systematically screens the coding region of the LQTS-associated genes (KCNQ1, HERG, KCNE1, KCNE2 and SCN5A) for mutations using DNA sequencing analysis.
RESULTSThe mutational analysis revealed 7 synonymous and 2 non-synonymous polymorphisms in the 5 ion channel genes screened.
CONCLUSIONWe did not identify any clear identifiable genetic marker causative of LQTS, suggesting the existence of LQTS-associated genes awaiting discovery.
