Novel Compound Heterozygous Mutations in the KCNQ1 Gene Associated with Autosomal Recessive Long QT Syndrome (Jervell and Lange‐Nielsen syndrome)

摘要

The Jervell and Lange‐Nielsen syndrome (JLNS) is the autosomal recessive form of long QT syndrome (LQTS)—a familial cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. JLNS is associated with sensorineural deafness and has been shown to occur with homozygous mutations in KCNQ1 or KCNE1 in JLNS families in which QTc prolongation is inherited as a dominant trait. This study investigated the molecular pathology of a family with clinical evidence of JLNS.