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, Jeffrey Towbin, A. J. Moss, D. L. Atkinson, G. M. Landes, T. D. Connors, M. T. Keating

Research output: Contribution to journalArticle

1374 Citations (Scopus)

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 (US)
Pages (from-to)17-23
Number of pages7
JournalNature Genetics
Volume12
Issue number1
DOIs
StatePublished - Jan 1 1996
Externally publishedYes

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Potassium Channels
Organism Cloning
Cardiac Arrhythmias
Sudden Death
Mutation
Genes
Voltage-Gated Potassium Channels
Chromosomes, Human, Pair 11
Missense Mutation
Tachycardia
Proteins

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Wang, Q., Curran, M. E., Splawski, I., Burn, T. C., Millholland, J. M., VanRaay, T. J., ... 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

Positional cloning of a novel potassium channel gene : KVLQT1 mutations cause cardiac arrhythmias. / 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, Jeffrey; Moss, A. J.; Atkinson, D. L.; Landes, G. M.; Connors, T. D.; Keating, M. T.

In: Nature Genetics, Vol. 12, No. 1, 01.01.1996, p. 17-23.

Research output: Contribution to journalArticle

Wang, Q, Curran, ME, Splawski, I, Burn, TC, Millholland, JM, VanRaay, TJ, Shen, J, Timothy, KW, Vincent, GM, De Jager, T, Schwartz, PJ, Towbin, J, Moss, AJ, Atkinson, DL, Landes, GM, Connors, TD & Keating, MT 1996, 'Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias', Nature Genetics, vol. 12, no. 1, pp. 17-23. https://doi.org/10.1038/ng0196-17
Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genetics. 1996 Jan 1;12(1):17-23. https://doi.org/10.1038/ng0196-17
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, Jeffrey ; Moss, A. J. ; Atkinson, D. L. ; Landes, G. M. ; Connors, T. D. ; Keating, M. T. / Positional cloning of a novel potassium channel gene : KVLQT1 mutations cause cardiac arrhythmias. In: Nature Genetics. 1996 ; Vol. 12, No. 1. pp. 17-23.
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