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

Q. Wang, M. E. Curran, I. Splawski, T. C. Burn, J. M. Millholland, T. J. VanRaay, J. Shen, K. W. Timothy, G. M. Vincent, T. De Jager, P. J. Schwartz, J. A. Towbin, A. J. Moss, D. L. Atkinson, G. M. Landes, T. D. Connors, M. T. Keating

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)17-23
Number of pages7
JournalNature Genetics
Volume12
Issue number1
DOIs
Publication statusPublished - Jan 1996

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias'. Together they form a unique fingerprint.

  • Cite this

    Wang, Q., Curran, M. E., Splawski, I., Burn, T. C., Millholland, J. M., VanRaay, T. J., Shen, J., Timothy, K. W., Vincent, G. M., De Jager, T., Schwartz, P. J., Towbin, J. A., Moss, A. J., Atkinson, D. L., Landes, G. M., Connors, T. D., & Keating, M. T. (1996). Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genetics, 12(1), 17-23. https://doi.org/10.1038/ng0196-17