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Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

Nat Genet. 1996 Jan;12(1):17-23. doi: 10.1038/ng0196-17.

Abstract

Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. KVLQT1 is strongly expressed in the heart and encodes a protein with structural features of a voltage-gated potassium channel. KVLQT1 mutations are present in affected members of 16 arrhythmia families, including one intragenic deletion and ten different missense mutations. These data define KVLQT1 as a novel cardiac potassium channel gene and show that mutations in this gene cause susceptibility to ventricular tachyarrhythmias and sudden death.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 11
  • Cloning, Molecular
  • Female
  • Genetic Linkage
  • Humans
  • Long QT Syndrome / genetics*
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Potassium Channels / genetics*
  • Sequence Alignment
  • Sequence Deletion
  • Sequence Homology, Amino Acid

Substances

  • Potassium Channels

Associated data

  • GENBANK/U89364