The KVLQT1 gene is not a common target for mutations in patients with various heart pathologies

J Appl Genet. 2002;43(2):245-54.


The long QT syndrome (LQTS) is a disorder of ventricular repolarization that exposes affected individuals to cardiac arrhythmias and sudden death. The first gene for LQTS has been mapped to chromosome 11 p.15.5 by genome-wide linkage analysis. This gene, originally named KVLQT1 (and later KCNQ1), is a novel potassium channel gene. Mutations in the human KVLQT1 gene, encoding the alpha-subunit of the KVLQT1 channel, cause the long QT syndrome. In this work, we analysed the sequence of six KVLQT1 exons in patients with various heart pathologies. We describe 6 different mSSCP patterns with no disease-related SSCP conformers in any sample. Direct sequencing of exons 2 to 7 confirmed the absence of mutations. This suggests that the analysed region of the KVLQT1 gene is not commonly involved in pathogenesis of the long QT syndrome.

MeSH terms

  • Heart Diseases / genetics*
  • Humans
  • KCNQ Potassium Channels
  • KCNQ1 Potassium Channel
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Potassium Channels / genetics*
  • Potassium Channels, Voltage-Gated*
  • Sequence Analysis, DNA


  • KCNQ Potassium Channels
  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human
  • Potassium Channels
  • Potassium Channels, Voltage-Gated