• Ann Acad Med Singap · Jun 2007

    Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family.

    • Seok-Hwee Koo, Wee-Siong Teo, Chi-Keong Ching, Soh-Ha Chan, and Edmund J D Lee.
    • Department of Pharmacology, National University of Singapore, Singapore.
    • Ann Acad Med Singap. 2007 Jun 1; 36 (6): 394-8.

    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.

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