Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome
作者： Jesaia Benhorin , Maya Goldmit , Jean W. MacCluer , John Blangero , Ruth Goffen
DOI: 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO;2-Z
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摘要: The long QT syndrome (LQT) is an inherited cardiac disorder that can cause sudden death among apparently healthy young individuals due to malignant ventricular arrhythmias. LQT was found be caused by mutations in four genes LQT1, LQT2, LQT3 and LQT5, linkage reported for additional locus, LQT4, on chromosome 4q25-27. We have studied a large (n=131) LQT-affected Jewish kindred identified tight between the status (lod score 6.13, with estimated recombination fraction of zero). new point-mutation, A G substitution at nucleotide 5519 SCN5A gene, changing aspartate 1840 glycine, D1840G. This non-conservative change amino acid completely conserved sodium channels from Molusca human. mutation all affected (n=23), not unaffected family members (n=40), 200 chromosomes control individuals. 3/12 equivocal phenotype, thus, providing accurate diagnostic tool members. currently being used cellular electrophysiological model, characterize function mutated channel this syndrome. Hum Mutat 12:72, 1998. © 1998 Wiley-Liss, Inc.
sci-hub.se 参考文章(15)
BATSHEVA KEREM, ORNIT CHIBA-FALEK, EITAN KEREM, Cystic fibrosis in Jews: frequency and mutation distribution. Genetic Testing. ,vol. 1, pp. 35- 39 ,(1997) , 10.1089/GTE.1997.1.35
Jean-Jacques Schott, Flavien Charpentier, Sophie Peltier, Patrick Foley, Emmanuel Drouin, Jean-Brieuc Bouhour, Patricia Donnelly, Gilles Vergnaud, Lucien Bachner, Jean-Paul Moisan, Hervé Le Marec, Olivier Pascal, Mapping of a gene for long QT syndrome to chromosome 4q25-27. American Journal of Human Genetics. ,vol. 57, pp. 1114- 1122 ,(1995)
P.J. Schwartz, J.A. Towbin, A.J. Moss, D.L. Atkinson, G.M. Landes, T.D. Connors, M.T. Keating, 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, Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genetics. ,vol. 12, pp. 17- 23 ,(1996) , 10.1038/NG0196-17
Walter Stühmer, Franco Conti, Harukazu Suzuki, Xiaodong Wang, Masaharu Noda, Naoki Yahagi, Hideo Kubo, Shosaku Numa, None, Structural parts involved in activation and inactivation of the sodium channel. Nature. ,vol. 339, pp. 597- 603 ,(1989) , 10.1038/339597A0
J. C. McPhee, D. S. Ragsdale, T. Scheuer, W. A. Catterall, A mutation in segment IVS6 disrupts fast inactivation of sodium channels Proceedings of the National Academy of Sciences of the United States of America. ,vol. 91, pp. 12346- 12350 ,(1994) , 10.1073/PNAS.91.25.12346
M. E. Gellens, A. L. George, L. Q. Chen, M. Chahine, R. Horn, R. L. Barchi, R. G. Kallen, Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel Proceedings of the National Academy of Sciences of the United States of America. ,vol. 89, pp. 554- 558 ,(1992) , 10.1073/PNAS.89.2.554
Changan Jiang, Donald Atkinson, Jeffrey A. Towbin, Igor Splawski, Michael H. Lehmann, Hua Li, Katherine Timothy, R. Thomas Taggart, Peter J. Schwartz, G. Michael Vincent, Arthur J. Moss, Mark T. Keating, Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity Nature Genetics. ,vol. 8, pp. 141- 147 ,(1994) , 10.1038/NG1094-141
J Benhorin, Y. Kalman, A Medina, J Towbin, N Rave-Harel, T. Dyer, J Blangero, J. MacCluer, B. Kerem, Evidence of genetic heterogeneity in the long QT syndrome Science. ,vol. 260, pp. 1960- 1962 ,(1993) , 10.1126/SCIENCE.8316839
J Benhorin, M Merri, M Alberti, E Locati, A J Moss, W J Hall, L Cui, Long QT syndrome. New electrocardiographic characteristics. Circulation. ,vol. 82, pp. 521- 527 ,(1990) , 10.1161/01.CIR.82.2.521
Igor Splawski, Martin Tristani-Firouzi, Michael H. Lehmann, Michael C. Sanguinetti, Mark T. Keating, Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nature Genetics. ,vol. 17, pp. 338- 340 ,(1997) , 10.1038/NG1197-338