Referenced in: none

Automatically associated channels: Kv11.1 , Kv7.1 , Nav1.5

Title: Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous.

Authors: E Schulze-Bahr, W Haverkamp, H Wedekind, C Rubie, M Hördt, M Borggrefe, G Assmann, G Breithardt, H Funke

Journal, date & volume: Hum. Genet., 1997 Oct , 100, 573-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9341873

Abstract
Jervell Lange-Nielsen syndrome (JLNS) is a recessive disorder with congenital deafness and long-QT syndrome (LQTS 1). Mutations in the potassium-channel gene KVLQT1 (LQTS 1) have been identified in JLNS and in autosomal-dominant LQTS as well. We performed haplotype analysis with microsatellite markers in a Lebanese family with JLNS, but failed to detect linkage at LQTS 1. Moreover, using this approach, we excluded two other ion-channel genes involved in autosomal-dominant LQTS, HERG (LQTS 2) and SCN5A (LQTS 3). Our findings indicate that JLNS is genetically heterogeneous and that, in this family, an unknown LQTS gene causes the disease.