User Visitor Login
/images/graph_sv_i.gif
English only
EPFL > FSV > BBP > Channelpedia
Ion channels
References
Reports
SEARCH IN WIKI
Logged in as a Visitor.

Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).

Li Ning, Arthur J Moss, Wojciech Zareba, Jennifer Robinson, Spencer Rosero, Dan Ryan, Ming Qi

Ann Noninvasive Electrocardiol, 2003 Jul , 8, 246-50

BACKGROUND: 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. METHODS AND RESULTS: Single-strand conformation polymorphism, denaturing high performance liquid chromatography, and DNA sequencing analyses were used to screen for KCNQ1 mutations. Novel compound heterozygous nonsense mutations R518X/Q530X in the C-terminus of KCNQ1 were identified in both affected dizygotic twins; both the parents and a sibling each carried only one of the mutant alleles and were asymptomatic with modestly prolonged QTc intervals (0.46, 0.50, and 0.45 seconds, respectively). These two nonsense mutations lead to premature termination of C-terminus with truncation of the postulated assembly domain. CONCLUSION: Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause JLNS.

http://www.ncbi.nlm.nih.gov/pubmed/14510661