Article
Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.
Clinical genetics - 1 Apr 2013
Shinwari Z M A, Al-Hazzani A, Dzimiri N, Tulbah S, Mallawi Y, Al-Fayyadh M, Al-Hassnan Z N
Abstract excerpt
Congenital long QT syndrome (LQTS) is an inherited potentially fatal arrhythmogenic disorder that is characterized by prolonged corrected QT (QTc) interval. Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases. However, 10 other genes are now known to be implicated in LQTS. In this work, we describe the clinical and molecular analysis in a large Saudi family with LQTS....
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