(Circulation. 2000;102:1178.)
© 2000 American Heart Association, Inc.
Basic Science Reports |
Spectrum of Mutations in Long-QT Syndrome Genes
KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
From the Department of Human Genetics (I.S., K.W.T., M.T.K.), Howard Hughes Medical Institute (J.S., M.T.K.), and Division of Cardiology (M.T.K.), University of Utah, and the Department of Medicine, LDS Hospital (G.M.V.), Salt Lake City, Utah; Department of Internal Medicine, University of Michigan, Ann Arbor (M.H.L.); Molecular Cardiology, Fondazione Maugeri (S.P.), and Department of Cardiology, University of Pavia and Policlinico S. Matteo (P.J.S.), IRCCS, Pavia, Italy; Department of Medicine, University of Rochester, Rochester, NY (J.L.R., A.J.M.); and Departments of Pediatrics and Molecular and Human Genetics (J.A.T.), Baylor College of Medicine, Houston, Tex.
Correspondence to Igor Splawski, University of Utah, Eccles Institute of Human Genetics, 15N 2030E Suite 2100, Salt Lake City, UT 84112-5330. E-mail igor.splawski{at}genetics.utah.edu
Background—Long-QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on ECG and presence of syncope, seizures, and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Mutations in KVLQT1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated with deafness, a phenotypic abnormality inherited in an autosomal recessive fashion.
Methods and Results—We used mutational analyses to screen a pool of 262 unrelated individuals with LQTS for mutations in the 5 defined genes. We identified 134 mutations in addition to the 43 that we previously reported. Eighty of the mutations were novel. The total number of mutations in this population is now 177 (68% of individuals).
Conclusions—KVLQT1 (42%) and HERG (45%) accounted for 87% of identified mutations, and SCN5A (8%), KCNE1 (3%), and KCNE2 (2%) accounted for the other 13%. Missense mutations were most common (72%), followed by frameshift mutations (10%), in-frame deletions, and nonsense and splice-site mutations (5% to 7% each). Most mutations resided in intracellular (52%) and transmembrane (30%) domains; 12% were found in pore and 6% in extracellular segments. In most cases (78%), a mutation was found in a single family or an individual.
Key Words: long-QT syndrome • arrhythmia • death, sudden • torsade de pointes • genetics
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A. J. Moss and P. J. Schwartz 25th Anniversary of the International Long-QT Syndrome Registry: An Ongoing Quest to Uncover the Secrets of Long-QT Syndrome Circulation, March 8, 2005; 111(9): 1199 - 1201. [Full Text] [PDF]
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T. M. Olson, V. V. Michels, J. D. Ballew, S. P. Reyna, M. L. Karst, K. J. Herron, S. C. Horton, R. J. Rodeheffer, and J. L. Anderson Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation JAMA, January 26, 2005; 293(4): 447 - 454. [Abstract] [Full Text] [PDF]
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C. E. Clancy and R. S. Kass Inherited and Acquired Vulnerability to Ventricular Arrhythmias: Cardiac Na+ and K+ Channels Physiol Rev, January 1, 2005; 85(1): 33 - 47. [Abstract] [Full Text] [PDF]
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S. D. Gage and W. R. Kobertz KCNE3 Truncation Mutants Reveal a Bipartite Modulation of KCNQ1 K+ Channels J. Gen. Physiol., November 29, 2004; 124(6): 759 - 771. [Abstract] [Full Text] [PDF]
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X. H. T. Wehrens and A. R. Marks Sudden Unexplained Death Caused by Cardiac Ryanodine Receptor (RyR2) Mutations Mayo Clin. Proc., November 1, 2004; 79(11): 1367 - 1371. [PDF]
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L. Zhang, G. M. Vincent, M. Baralle, F. E. Baralle, B. D. Anson, D. W. Benson, B. Whiting, K. W. Timothy, J. Carlquist, C. T. January, et al. An intronic mutation causes long QT syndrome J. Am. Coll. Cardiol., September 15, 2004; 44(6): 1283 - 1291. [Abstract] [Full Text] [PDF]
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 T. Jespersen, H. B. Rasmussen, M. Grunnet, H. S. Jensen, K. Angelo, D. S. Dupuis, L. K. Vogel, N. K. Jorgensen, D. A. Klaerke, and S.-P. Olesen Basolateral localisation of KCNQ1 potassium channels in MDCK cells: molecular identification of an N-terminal targeting motif J. Cell Sci., September 1, 2004; 117(19): 4517 - 4526. [Abstract] [Full Text] [PDF]
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H. Kanki, S. Kupershmidt, T. Yang, S. Wells, and D. M. Roden A Structural Requirement for Processing the Cardiac K+ Channel KCNQ1 J. Biol. Chem., August 6, 2004; 279(32): 33976 - 33983. [Abstract] [Full Text] [PDF]
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E. Villain, I. Denjoy, J.M. Lupoglazoff, P. Guicheney, B. Hainque, V. Lucet, and D. Bonnet Low incidence of cardiac events with {beta}-blocking therapy in children with long QT syndrome Eur. Heart J., August 2, 2004; 25(16): 1405 - 1411. [Abstract] [Full Text] [PDF]
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Q. Gong, C. L. Anderson, C. T. January, and Z. Zhou Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild-type and long QT mutant N470D subunits Am J Physiol Heart Circ Physiol, August 1, 2004; 287(2): H652 - H658. [Abstract] [Full Text] [PDF]
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W. Shimizu, M. Horie, S. Ohno, K. Takenaka, M. Yamaguchi, M. Shimizu, T. Washizuka, Y. Aizawa, K. Nakamura, T. Ohe, et al. Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: Multicenter study in Japan J. Am. Coll. Cardiol., July 7, 2004; 44(1): 117 - 125. [Abstract] [Full Text] [PDF]
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L. Gouas, C. Bellocq, M. Berthet, F. Potet, S. Demolombe, A. Forhan, R. Lescasse, F. Simon, B. Balkau, I. Denjoy, et al. New KCNQ1 mutations leading to haploinsufficiency in a general population: Defective trafficking of a KvLQT1 mutant Cardiovasc Res, July 1, 2004; 63(1): 60 - 68. [Abstract] [Full Text] [PDF]
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K. Ueda, K. Nakamura, T. Hayashi, N. Inagaki, M. Takahashi, T. Arimura, H. Morita, Y. Higashiuesato, Y. Hirano, M. Yasunami, et al. Functional Characterization of a Trafficking-defective HCN4 Mutation, D553N, Associated with Cardiac Arrhythmia J. Biol. Chem., June 25, 2004; 279(26): 27194 - 27198. [Abstract] [Full Text] [PDF]
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T. E. Miller, E. Estrella, R. J. Myerburg, J. G. de Viera, N. Moreno, P. Rusconi, M. E. Ahearn, L. Baumbach, P. Kurlansky, G. Wolff, et al. Recurrent Third-Trimester Fetal Loss and Maternal Mosaicism for Long-QT Syndrome Circulation, June 22, 2004; 109(24): 3029 - 3034. [Abstract] [Full Text] [PDF]
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P. J. Mohler, I. Splawski, C. Napolitano, G. Bottelli, L. Sharpe, K. Timothy, S. G. Priori, M. T. Keating, and V. Bennett A cardiac arrhythmia syndrome caused by loss of ankyrin-B function PNAS, June 15, 2004; 101(24): 9137 - 9142. [Abstract] [Full Text] [PDF]
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R. Khanna, E. J. Lee, and D. M. Papazian Transient calnexin interaction confers long-term stability on folded K+ channel protein in the ER J. Cell Sci., June 15, 2004; 117(14): 2897 - 2908. [Abstract] [Full Text] [PDF]
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N. C. H. Kerr, F. E. Holmes, and D. Wynick Novel Isoforms of the Sodium Channels Nav1.8 and Nav1.5 Are Produced by a Conserved Mechanism in Mouse and Rat J. Biol. Chem., June 4, 2004; 279(23): 24826 - 24833. [Abstract] [Full Text] [PDF]
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 A. Krumerman, X. Gao, J.-S. Bian, Y. F. Melman, A. Kagan, and T. V. McDonald An LQT mutant minK alters KvLQT1 trafficking Am J Physiol Cell Physiol, June 1, 2004; 286(6): C1453 - C1463. [Abstract] [Full Text] [PDF]
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