Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous
E Schulze-Bahr, W Haverkamp, H Wedekind, C Rubie… - Human genetics, 1997 - Springer
E Schulze-Bahr, W Haverkamp, H Wedekind, C Rubie, M Hördt, M Borggrefe, G Assmann…
Human genetics, 1997•SpringerAbstract Jervell Lange-Nielsen syndrome (JLNS) is a recessive disorder with congenital
deafness and long-QT syndrome (LQTS). 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 …
deafness and long-QT syndrome (LQTS). 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 …
Abstract
Jervell Lange-Nielsen syndrome (JLNS) is a recessive disorder with congenital deafness and long-QT syndrome (LQTS). 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.
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