Forensic Science International: Genetics
Volume 1, Issue 2 , Pages 170-174 , June 2007

Mutations in the SCN5A gene: Evidence for a link between long QT syndrome and sudden death?

Received 24 January 2007 ,Accepted 27 January 2007.

References 

  1. Tester DJ, Ackerman MJ. The role of molecular autopsy in unexplained sudden cardiac death. Curr. Opin. Cardiol. 2006;21:166–172
  2. Virmani R, Burke AP, Farb A. Sudden cardiac death. Cardiovasc. Pathol. 2001;10:211–218
  3. Wedekind H, Schulze-Bahr E, Debus V, Breithardt G, Brinkmann B, Bajanowski T. Cardiac arrhythmias and sudden death in infancy: implication for the medicolegal investigation. Int. J. Legal Med. 2006;6:1–13(Epub ahead of print)
  4. Sarkozy A, Brugada P. Sudden cardiac death and inherited arrhythmia syndromes. J. Cardiovasc. Electrophysiol. 2005;16(Suppl. l):S8–S20
  5. Schwartz PJ, Stramba-Badiale M, Segantini A, Austoni P, Bosi G, Giorgetti R, et al. Prolongation of the QT Interval and the sudden infant death syndrome. N. Engl. J. Med. 1998;338:1709–1714
  6. Marban E. Cardiac channelopathies. Nature. 2002;415:213–218
  7. Chiang CE. Congential and acquired long QT syndrome. Cardiol. Rev. 2004;12:222–234
  8. Modell SM, Lehmann MH. The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet. Med. 2006;8:143–155
  9. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995;80:795–803
  10. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, Van Raay TJ, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmia. Nat. Genet. 1996;12:17–23
  11. Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, et al. MiRPl forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 1999;97:175–187
  12. Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat. Genet. 1997;17:267–268
  13. Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Anderson syndrome). J. Clin. Invest. 2002;110:381–388
  14. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995;80:805–811
  15. Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc. Natl. Acad. Sci. U.S.A. 2005;102:8089–8096
  16. Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosin S, duBell WH. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003;421:634–639
  17. Moss AJ. Long QT syndrome. JAMA. 2003;289:2041–2044
  18. Zareba W, Moss AJ, Schwatz PJ, Vincent GM, Robinson JL, Priori SG, et al. Influence of the genotype on the clinical course of the long QT syndrome. N. Engl. J. Med. 1998;339:960–965
  19. Hajj RH, Zareba W, Moss AJ, Schwartz PJ, Benhorin J, Vincent GM, et al. Clinical and genetic variables associated with acute arousal and nonarousal-related cardiac events among subjects with the long QT syndrome. Am. J. Cardiol. 2000;85:457–461
  20. Schwartz PJ, Priori SG, Dumaine R, Napolitano C, Antzelevitch C, Stramba-Badiale M, et al. A molecular link between the sudden infant death syndrome and the long-QT syndrome. N. Engl. J. Med. 2000;343:262–267
  21. Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001;286:2264–2269
  22. Yang P, Kupershmidt S, Roden DM. Cloning and initial characterization of the human cardiac sodium channel (SCN5A) promoter. Cardiovasc. Res. 2004;61:56–65
  23. Larsen AL, Andersen PS, Kanters J, Svendsen IH, Jacobsen JR, Vuust J, et al. Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRPl ion channel: implications for acquired and congential long QT syndrome. Clin. Chem. 2001;8:1390–1395
  24. Larsen LA, Christiansen M, Vuust J, Andersen PS. High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Hum. Mutat. 1999;13:318–327
  25. Akimoto K, Furutani M, Imamura S, Furutani Y, Kasanuki H, Takao AK. Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. Hum. Mutat. 1998;1:S184–S186
  26. Aydin A, Bähring S, Dahm S, Guenther UP, Uhlmann R, Busjahn A, et al. Single nucleotide polymorphism map of five long-QT genes. J. Mol. Med. 2005;83:159–165
  27. Itoh T, Tanaka T, Nagai R, Kamiya T, Sawayama T, Nakayama T, et al. Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum. Genet. 1998;102:435–439
  28. Bezzina C, Veldkamp MW, van den Berg MP, Postma AV, Rook MB, Viersma JW, et al. A single Na+ channel mutation causing both long qt syndrome and Brugada syndromes. Circ. Res. 1999;85:1206–1213
  29. Viswanathan PC, Benson DW, Balser JR. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J. Clin. Invest. 2003;111:341–346
  30. Ye B, Valdivia CR, Ackerman MJ, Makielski JC. A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol. Genomics. 2003;12:187–193
  31. Bezzina CR, Shimizu W, Yang P, Koopmann TT, Tanck MWT, Miyamoto Y, et al. Common sodium channel promoter haplotype in Asian subjects underlies variability in cardiac conduction. Circulation. 2006;113:338–344
  32. Mazumder B, Seshadri V, Fox PL. Translational control by the 3′-UTR: the ends specify the means. Trends Biochem. Sci. 2003;28:91–98
  33. Shang LL, Dudley SC. Tandem promoters and developmentally regulated 5′- and 3′-mRNA untranslated regions of the mouse SCN5A cardiac sodium channel. J. Biol. Chem. 2005;280:933–940

PII: S1872-4973(07)00047-6

doi: 10.1016/j.fsigen.2007.01.009

Forensic Science International: Genetics
Volume 1, Issue 2 , Pages 170-174 , June 2007

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