title: Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous.
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.
authors.affiliation: Department of Cardiology and Angiology, Hospital of the University of Münster, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Schulze-Bahr
authors.forename: W
authors.initials: W
authors.lastname: Haverkamp
authors.forename: H
authors.initials: H
authors.lastname: Wedekind
authors.forename: C
authors.initials: C
authors.lastname: Rubie
authors.forename: M
authors.initials: M
authors.lastname: Hördt
authors.forename: M
authors.initials: M
authors.lastname: Borggrefe
authors.forename: G
authors.initials: G
authors.lastname: Assmann
authors.forename: G
authors.initials: G
authors.lastname: Breithardt
authors.forename: H
authors.initials: H
authors.lastname: Funke
mesh_terms: D027682:Cation Transport Proteins; D002648:Child; D004268:DNA-Binding Proteins; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D007861:Lebanon; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated; D017422:Sequence Analysis, DNA; D015222:Sodium Channels / Q000235:genetics; D013577:Syndrome; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG
chemical_list: D027682:Cation Transport Proteins; D004268:DNA-Binding Proteins; C072312:ERG protein, human; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; C092509:KCNH6 protein, human; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C568320:SCN5A protein, human; D015222:Sodium Channels; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG