Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system

Circulation Research

Volumn 92, Issue 2, 2003, Pages 159-168

  Bezzina, Connie R ^a   Rook, Martin B ^b   Groenewegen, W Antoinette ^b   Herfst, Lucas J ^b   Van der Wal, Allard C ^a   Lam, Jan ^a   Jongsma, Habo J ^b   Wilde, Arthur A M ^a   Mannens, Marcel M A M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Arrhythmia; Cardiomyopathy; Conduction; Electrophysiology; Ion channels

Indexed keywords

GENE PRODUCT; PROTEIN SCN5A; SODIUM CHANNEL; UNCLASSIFIED DRUG;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHILD; DISEASE SEVERITY; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HEART MUSCLE CONDUCTION DISTURBANCE; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; QRS COMPLEX; TACHYCARDIA;

AMINO ACID SUBSTITUTION; ANIMALS; ARRHYTHMIA; CELL LINE; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FEMALE; HAPLOTYPES; HEART CONDUCTION SYSTEM; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; MICROINJECTIONS; MUTATION; OOCYTES; PATCH-CLAMP TECHNIQUES; PEDIGREE; POLYMORPHISM, GENETIC; SODIUM CHANNELS; TACHYCARDIA; XENOPUS;

EID: 0037423552     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.0000052672.97759.36     Document Type: Article

References (39)

1. Brink PA, Ferreira A, Moolman JC, Weymar HW, van der Merwe PL, Corfield VA. Gene for progressive familial heart block type I maps to chromosome 19q13. Circulation. 1995;91:1633-1640.
2. de Meeus A, Stephan E, Debrus S, Jean MK, Loiselet J, Weissenbach J, Demaille J, Bouvagnet P. An isolated cardiac conduction disease maps to chromosome 19q. Circ Res. 1995;77:735-740.
3. Kyndt F, Schott J-J, Probst V, Le Marec H. A new locus for isolated cardiac conduction defect maps to 16q23-24. Circulation. 2000; 102(suppl II):II-358. Abstract.
4. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet. 1999;23:20-21.
5. Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ, van den Berg MP, Wilde AAM, Balser JR. A sodium-channel mutation causes isolated cardiac conduction disease. Nature. 2001;409:1043-1047.
6. Bezzina CR, Rook MB, Wilde AAM. Cardiac sodium channel and inherited arrhythmia syndromes. Cardiovasc Res. 2001;49:257-271.
7. Alings M, Wilde A. "Brugada" syndrome: clinical data and suggested pathophysiological mechanism. Circulation. 1999;99:666-673.
8. Zareba W, Sattari MN, Rosero S, Couderc JP, Moss AJ. Altered atrial, atrioventricular, and ventricular conduction in patients with the long QT syndrome caused by the ΔKPQ SCN5A sodium channel gene mutation. Am J Cardiol. 2001;88:1311-1314.
9. Benhorin J, Taub R, Goldmit M, Kerem B, Kass RS, Windman I, Medina A. Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome? Circulation. 2000;101: 1698-1706.
10. + channel mutation causing both Long-QT and Brugada syndromes. Circ Res. 1999;85: 1206-1213.
11. Gellens ME, George AL, Chen L, Chahine M, Horn R, Barchi RL, Kallen RG. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Nat Acad Sci USA. 1992;89:554-558.
12. + channels. Circ Res. 1996;78:244-252.
13. Stühmer W. Electrophysiological recording from Xenopus oocytes. Methods Enzym. 1992;207:319-339.
14. Rook MB, Bezzina Alshinawi C, Groenewegen WA, van Gelder IC, van Ginneken ACG, Jongsma HJ, Mannens MMAM, Wilde AAM. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res. 1999;44: 507-517.
15. Hille B. Ionic Channels of Excitable Membranes, 2nd ed. Sunderland, Mass: Sinaurer Associates; 1992;54-57.
16. Chen L-Q, Santarelli V, Horn R, Kallen RG. A unique role for the S4 segment of domain 4 in the inactivation of sodium channels. J Gen Physiol. 1996;108:549-556.
17. Vilin YY, Fujimoto E, Ruben PC. A novel mechanism associated with idiopathic ventricular fibrillation (IVF) mutations R1232W and T1620 M in human cardiac sodium channels. Pflugers Arch. 2001;442:204-211.
18. Lerman BB. Response of nonreentrant catecholamine-mediated ventricular tachycardia to endogenous adenosine and acetylcholine. Evidence for myocardial receptor-mediated effects. Circulation. 1993;87:382-390.
19. Kupershmidt S, Yang T, Anderson ME, Wessels A, Niswender KD, Magnuson MA, Roden DM. Replacement by homologous recombination of the minK gene with lacZ reveals restriction of minK expression to the mouse cardiac conduction system. Circ Res. 1999;84:146-152.
20. Lupoglazoff JM, Cheav T, Baroudi G, Berthet M, Denjoy I, Cauchemez B, Extramiana F, Chahine M, Guicheney P. Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. Circ Res. 2001;89:e16-e21.
21. Frischmeyer PA. Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet. 1999;8:1893-1900.
22. Culbertson MR. RNA surveillance: unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet. 1999; 15:74-80.
23. Papadatos GA, Wallerstein PMR, Head CEG, Ratcliff R, Brady PA, Benndorf K, Saumarez RC, Trezise AEO, Huang CL-H, Vandenberg JI, Colledge WH, Grace AA. Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. Proc Nat Acad Sci U S A. 2002;99:6210-6215.
24. Stuhmer W, Conti F, Suzuki H, Wang XD, Noda M, Yahagi N, Kubo H, Numa S. Structural parts involved in activation and inactivation of the sodium channel. Nature. 1989;339:597-603.
25. Bezanilla F. The voltage sensor in voltage-dependent ion channels. Physiol Rev. 2000;80:555-592.
26. Shaw RM, and Rudy Y. Electrophysiologic Ionic mechanisms of propagation in cardiac tissue: roles of the sodium and L-type calcium currents during reduced excitability and decreased gap junction coupling. Circ Res. 1997;81:727-741.
27. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schulze-Bahr E, Keating MT, Towbin JA, Wang Q. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 1998;392:293-296.
28. Hall GW, Thein S. Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant β-thalassemia. Blood. 1994;83:2031-2037.
29. Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 1993;17:468-475.
30. Hoorntje T, Alders M, van Tintelen P, van der Lip K, Sreeram N, van der Wal A, Mannens M, Wilde AAM. Homozygous premature truncation of the HERG protein: the human HERG knockout. Circulation. 1999;100: 1264-1267.
31. Bharati S, Dreifus L, Bucheleres G, Molthan M, Covitz W, Isenberg HS, Lev M. The conduction system in patients with a prolonged QT interval. J Am Coll Cardiol. 1985;6:1110-1119.
32. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001;10:189-194.
33. Trippel DL, Parsons MK, Gillette PC. Infants with long-QT syndrome and 2:1 atrioventricular block. Am Heart J. 1995;130:1130-1134.
34. Marks ML, Whisler SL, Clericuzio C, Keating M. A new form of long QT syndrome associated with syndactyly. J Am Coll Cardiol. 1995;25: 59-64.
35. Pellegrino A, Ho SY. Anderson RH. Hegerty A, Godman MJ, Michaelsson M. Prolonged QT interval and the cardiac conduction tissues. Am J Cardiol. 1986;58:1112-1113.
36. Wu M-H, Hsieh F-C, Wang J-K, Kau M-L. A variant of long QT syndrome manifested as fetal tachycardia and associated with ventricular septal defect. Heart. 1999;82:386-388.
37. Saoudi N, Bozio A, Kirkorian G, Atallah G, Normand J, Touboul P. Prolonged QT, atrioventricular block, and sudden death in the newborn: an electrophysiologic evaluation. Eur Heart J. 1991;12:838-841.
38. Nuyens D, Stengl M, Dugarmaa S, Rossenbacker T, Compernolle V, Rudy Y, Smits JF, Flameng W, Clancy CE, Moons L, Vos MA, Dewerchin M, Benndorf K, Collen D, Carmeliet E, Carmeliet P. Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome. Nat Med. 2001;7:1021-1027.
39. Koushik SV, Wang J, Rogers R, Moskophidis D, Lambert NA, Creazzo TL, Conway SJ. Targeted inactivation of the sodium-calcium exchanger (Ncx1) results in the lack of a heartbeat and abnormal myofibrillar organization. FASEB J. 2001;15:1209-1211.