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

Hum Genet. 1997 Oct;100(5-6):573-6. doi: 10.1007/s004390050554.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cation Transport Proteins*
  • Child
  • DNA-Binding Proteins*
  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • Female
  • Genes, Recessive / genetics
  • Genetic Heterogeneity*
  • Genetic Linkage
  • Haplotypes*
  • Humans
  • KCNQ Potassium Channels
  • KCNQ1 Potassium Channel
  • Lebanon
  • Long QT Syndrome / genetics*
  • Male
  • Microsatellite Repeats
  • NAV1.5 Voltage-Gated Sodium Channel
  • Pedigree
  • Potassium Channels / genetics
  • Potassium Channels, Voltage-Gated*
  • Sequence Analysis, DNA
  • Sodium Channels / genetics
  • Syndrome
  • Trans-Activators*
  • Transcriptional Regulator ERG

Substances

  • Cation Transport Proteins
  • DNA-Binding Proteins
  • ERG protein, human
  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • KCNH2 protein, human
  • KCNH6 protein, human
  • KCNQ Potassium Channels
  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human
  • NAV1.5 Voltage-Gated Sodium Channel
  • Potassium Channels
  • Potassium Channels, Voltage-Gated
  • SCN5A protein, human
  • Sodium Channels
  • Trans-Activators
  • Transcriptional Regulator ERG