Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese

Journal of Cardiovascular Disease Research

Volumn 1, Issue 2, 2010, Pages 69-74

  Liang, Peng ^a   Liu, Wenling ^b   Li, Cuilan ^b   Tao, Wuhua ^c   Li, Lei ^b   Hu, Dayi ^b  

^a BEIJING CHUIYANGLIU HOSPITAL   (China)

^b PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

^c FUDAN UNIVERSITY   (China)

Author keywords

Brugada syndrome; cardiac sodium channel; long QT syndrome; SCN5A gene mutation

Indexed keywords

GENOMIC DNA;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; BRUGADA SYNDROME; CARBOXY TERMINAL SEQUENCE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HERG GENE; HUMAN; KCNQ1 GENE; LONG QT SYNDROME; LONG QT SYNDROME TYPE 3; MALE; PRIORITY JOURNAL; SCN5A GENE;

EID: 79953030501     PISSN: 09753583     EISSN: 09762833     Source Type: Journal    
DOI: 10.4103/0975-3583.64437     Document Type: Article

References (29)

1. Brugada P, Brugada J. Right bundle branch block, persistent ST-segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome: a multicenter report. J Am Coll Cardiol 1992;20:1391-6.
2. Antzelevitch C, Brugada P, Brugada J, Brugada R, Shimizu W, Gussak I, et al. Brugada syndrome: a decade of progress. Circ Res 2002;91:1114-8. (Pubitemid 36076359)
3. Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, et al. Brugada Syndrome: Report of the Second Consensus Conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005;111:659-70.
4. 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. Nat Genet 1996;12:17-23. (Pubitemid 26011314)
5. 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.
6. 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;80:805-11.
7. Phillips JR, Case CL. Evaluation and treatment of pediatric patients with congenital or acquired long QT syndromes. Prog Pediatr Cardiol 2001;13:101-10. (Pubitemid 32660357)
8. Moss AJ, Zareba W, Hall WJ, Schwartz PJ, Crampton RS, Benhorin J, et al. Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation 2000;101:616-23. (Pubitemid 30094732)
9. Liu W, Hu D, Li C, Li P, Li Y, Li Z, et al. Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome. Chin Med J (Engl) 2003;116:1333-5. (Pubitemid 37184832)
10. Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, Giuli LC, et al. Spectrum of ST-T-Wave Patterns and Repolarization Parameters in Congenital Long-QT Syndrome: ECG findings identify genotypes. Circulation 2000;102:2849-55.
11. Wang Q, Li Z, Shen J, Keating MT. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 1996;34:9-16. (Pubitemid 26159876)
12. Deschnes I, Baroudi G, Berthet M, Barde I, Chalvidan T, Denjoy I, et al. Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc Res 2000;46:55-65. (Pubitemid 30155945)
13. Rook MB, Bezzina Alshinawi C, Groenewegen WA, van Gelder IC, van Ginneken AC, Jongsma HJ, et al. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res 1999;44:507-17. (Pubitemid 30012053)
14. Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, et al. A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett 2000;479:29-34. (Pubitemid 30625253)
15. Baroudi G, Pouliot V, Denjoy I, Guicheney P, Shrier A, Chahine M. Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). Circ Res 2001;88:E78-83.
16. Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baro I, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001;104:3081-6. (Pubitemid 34014061)
17. Abriel H, Cabo C, Wehrens XH, Rivolta I, Motoike HK, Memmi M, et al. Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na+ channel. Circ Res 2001;88:740-5. (Pubitemid 32378145)
18. Rivolta I, Clancy CE, Tateyama M, Liu H, Priori SG, Kass RS. A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction. Physiol Genomics 2002;10:191-7. (Pubitemid 135707441)
19. Groenewegen WA, Bezzina CR, van Tintelen JP, Hoorntje TM, Mannens MM, Wilde AA, et al. A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics. Cardiovasc Res 2003;57:1072-8. (Pubitemid 36324612)
20. Clancy CE, Tateyama M, Liu H, Wehrens XH, Kass RS. Non-equilibrium gating in cardiac Na+ channels: an original mechanism of arrhythmia. Circulation 2003;107:2233-7. (Pubitemid 36547218)
21. Priori SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Giordano U, et al. Natural history of Brugada syndrome: insights for risk stratification and management. Circulation 2002;105:1342-7. (Pubitemid 34260426)
22. Levy-Nissenbaum E, Eldar M, Wang Q, Lahat H, Belhassen B, Ries L, et al. Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity. Genet Test 2001;5:331-4. (Pubitemid 34258411)
23. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, KCNE2. Circulation 2000;102:1178-85.
24. Chen T, Inoue M, Sheets MF. Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617. Am J Physiol Heart Circ Physiol 2005;288:H2666-76. (Pubitemid 40720644)
25. Cormier JW, Rivolta I, Tateyama M, Yang AS, Kass RS. Secondary structure of the human cardiac Na+ channel C terminus. J Biol Chem 2002;277:9233-41.
26. Wei J, Wang DW, Alings M, Fish F, Wathen M, Roden DM, et al. Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. Circulation 1999;99:3165-71. (Pubitemid 29289083)
27. Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, et al. A signal Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999;85:1206-13. (Pubitemid 30430627)
28. Rivolta I, Abriel H, Tateyama M, Liu H, Memmi M, Vardas P, et al. Inherited Brugada and long QT-3 syndrome mutations of a single channel residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem 2001;276:30623-30.
29. An RH, Wang XL, Kerem B, Benhorin J, Medina A, Goldmit M, et al. Novel LQT-3 mutation affects Na+ channel activity through interactions between - and -subunits. Circ Res 1998;83:141-6. (Pubitemid 28354458)