Mutations in SCN10A are responsible for a large fraction of cases of brugada syndrome

Journal of the American College of Cardiology

Volumn 64, Issue 1, 2014, Pages 66-79

  Hu, Dan ^a   Barajas Martínez, Hector ^a   Pfeiffer, Ryan ^a   Dezi, Fabio ^a   Pfeiffer, Jenna ^a   Buch, Tapan ^a   Betzenhauser, Matthew J ^a   Belardinelli, Luiz ^b   Kahlig, Kristopher M ^b   Rajamani, Sridharan ^b   Deantonio, Harry J ^c   Myerburg, Robert J ^d   Ito, Hiroyuki ^e   Deshmukh, Pramod ^f   Marieb, Mark ^g   Nam, Gi Byoung ^h   Bhatia, Atul ⁱ   Hasdemir, Can ^j   Haïssaguerre, Michel ^k   Veltmann, Christian ^l   Schimpf, Rainer ^m   Borggrefe, Martin ^m   Viskin, Sami ⁿ   Antzelevitch, Charles ^a   more..

^a MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^b Gilead Sciences   (United States)

^c EAST CAROLINA UNIVERSITY   (United States)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^e SHOWA UNIVERSITY   (Japan)

^f GUTHRIE RESEARCH INSTITUTE   (United States)

^g YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h University of Ulsan College of Medicine   (South Korea)

ⁱ Aurora Cardiovascular Services   (United States)

^j EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^k HAUT LÉVÊQUE HOSPITAL   (France)

^l HANNOVER MEDICAL SCHOOL   (Germany)

^m UNIVERSITY OF HEIDELBERG   (Germany)

ⁿ TEL AVIV UNIVERSITY   (Israel)

more..

Author keywords

Brugada syndrome; cardiac arrhythmias; cardiac conduction disease; electrophysiology; genetics; sudden cardiac death

Indexed keywords

SODIUM CHANNEL NAV1.5; SODIUM CHANNEL NAV1.8;

ADULT; AGED; ARTICLE; BRUGADA SYNDROME; CELL MEMBRANE; CONTROLLED STUDY; DISEASE ASSOCIATION; DOWN REGULATION; FEMALE; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; IMMUNOPRECIPITATION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; PR INTERVAL; PRIORITY JOURNAL; QRS COMPLEX; SCN10A GENE; SCN5A GENE; SODIUM CURRENT; WILD TYPE; YOUNG ADULT;

BRUGADA SYNDROME; CARDIAC ARRHYTHMIAS; CARDIAC CONDUCTION DISEASE; ELECTROPHYSIOLOGY; GENETICS; SUDDEN CARDIAC DEATH;

ADULT; AGED; BRUGADA SYNDROME; FEMALE; GENETIC VARIATION; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NAV1.8 VOLTAGE-GATED SODIUM CHANNEL; YOUNG ADULT;

EID: 84903844924     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2014.04.032     Document Type: Article

References (33)

1. P. Brugada, and J. Brugada 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 20 1992 1391 1396
2. C. Antzelevitch, and G.X. Yan J wave syndromes Heart Rhythm 7 2010 549 558
3. C. Antzelevitch Genetic, molecular and cellular mechanisms underlying the J wave syndromes Circ J 76 2012 1054 1065
4. D. Hu, H. Barajas-Martinez, and A. Terzic et al. ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene Int J Cardiol 171 2014 431 442
5. J.D. Kapplinger, D.J. Tester, and M. Alders et al. An international compendium of mutations in the SCN5A encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing Heart Rhythm 7 2010 33 46
6. L. Crotti, C.A. Marcou, and D.J. Tester et al. Spectrum and prevalence of mutations Involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing J Am Coll Cardiol 60 2012 1410 1418
7. M.J. Ackerman, S.G. Priori, and S. Willems et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA) Heart Rhythm 8 2011 1308 1339
8. L. Sangameswaran, S.G. Delgado, and L.M. Fish et al. Structure and function of a novel voltage-gated, tetrodotoxin-resistant sodium channel specific to sensory neurons J Biol Chem 271 1996 5953 5956
9. A.N. Akopian, L. Sivilotti, and J.N. Wood A tetrodotoxin-resistant voltage-gated sodium channel expressed by sensory neurons Nature 379 1996 257 262
10. M. van den Boogaard, L.Y. Wong, and F. Tessadori et al. Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer J Clin Invest 122 2012 2519 2530
11. A.O. Verkerk, C.A. Remme, and C.A. Schumacher et al. Functional Nav1.8 channels in intracardiac neurons: the link between SCN10A and cardiac electrophysiology Circ Res 111 2012 333 343
12. T. Yang, T.C. Atack, and D.M. Stroud et al. Blocking Scn10a channels in heart reduces late sodium current and is antiarrhythmic Circ Res 111 2012 322 332
13. J.M. Jeff, M.D. Ritchie, and J.C. Denny et al. Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans Ann Hum Genet 2013 Mar 28 [E-pub ahead of print]
14. M.D. Ritchie, J.C. Denny, and R.L. Zuvich et al. Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk Circulation 127 2013 1377 1385
15. N. Sotoodehnia, A. Isaacs, and P.I. de Bakker et al. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction Nat Genet 42 2010 1068 1076
16. J.C. Denny, M.D. Ritchie, and D.C. Crawford et al. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science Circulation 122 2010 2016 2021
17. H. Holm, D.F. Gudbjartsson, and D.O. Arnar et al. Several common variants modulate heart rate, PR interval and QRS duration Nat Genet 42 2010 117 122
18. J.C. Chambers, J. Zhao, and C.M. Terracciano et al. Genetic variation in SCN10A influences cardiac conduction Nat Genet 42 2010 149 152
19. J.G. Smith, J.W. Magnani, and C. Palmer et al. Genome-wide association studies of the PR interval in African Americans PLoS Genet 7 2011 e1001304
20. A. Pfeufer, N.C. van, and K.D. Marciante et al. Genome-wide association study of PR interval Nat Genet 42 2010 153 159
21. C.R. Bezzina, J. Barc, and Y. Mizusawa et al. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death Nat Genet 45 2013 1044 1049
22. D. Hu, H. Barajas-Martinez, and K. Kahlig et al. Genetic variants in SCN10A associated with Brugada syndrome, right bundle branch block and atrioventricular block (abstr) Heart Rhythm 9 2012 S395
23. C. Antzelevitch, P. Brugada, and M. Borggrefe et al. Brugada syndrome: report of the second consensus conference Heart Rhythm 2 2005 429 440
24. C. Antzelevitch, and G.X. Yan J-wave syndromes. From cell to bedside J Electrocardiol 44 2011 656 661
25. D. Hu, H. Barajas-Martinez, and E. Burashnikov et al. A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype Circ Cardiovasc Genet 2 2009 270 278
26. Y. Aizawa, S. Takatsuki, and M. Sano et al. Brugada syndrome behind complete right bundle-branch block Circulation 128 2013 1048 1054
27. E. Tzoumaka, S.D. Novakovic, and M. Haraguchi et al. PN3 sodium channel distribution in the dorsal root ganglia of normal and neuropathic rats Proc West Pharmacol Soc 40 1997 69 72
28. P. Facer, P.P. Punjabi, and A. Abrari et al. Localisation of SCN10A gene product Na(v) 1.8 and novel pain-related ion channels in human heart Int Heart J 52 2011 146 152
29. S. Leo, R. D'Hooge, and T. Meert Exploring the role of nociceptor-specific sodium channels in pain transmission using Nav1.8 and Nav1.9 knockout mice Behav Brain Res 208 2010 149 157
30. J.A. Kearney, Y. Yang, and B. Beyer et al. Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2 Hum Mol Genet 15 2006 1043 1048
31. M.S. Martin, B. Tang, and L.A. Papale et al. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy Hum Mol Genet 16 2007 2892 2899
32. N.A. Singh, C. Pappas, and E.J. Dahle et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome PLoS Genet 5 2009 e1000649
33. J. Clatot, A. Ziyadeh-Isleem, and S. Maugenre et al. Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Nav1.5 alpha-subunits Cardiovasc Res 96 2012 53 63