Genetic analysis of Brugada syndrome in Western Japan - Two novel mutations

Circulation Journal

Volumn 68, Issue 8, 2004, Pages 740-746

  Niimura, Hideya ^a   Matsunaga, Akira ^a   Kumagai, Koichiro ^a   Ohwaki, Kazuo ^a   Ogawa, Masahiro ^a   Noguchi, Hiroo ^a   Yonemura, Kazue ^a   Saku, Keijiro ^a  

^a FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Brugada syndrome; Cardiac sodium channel; Polymorphisms; SCN5A gene mutation

Indexed keywords

SODIUM CHANNEL;

ADULT; AGED; ARTICLE; BRUGADA SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROCARDIOGRAM; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HEART MUSCLE EXCITABILITY; HEART RIGHT BUNDLE BRANCH BLOCK; HEART VENTRICLE FIBRILLATION; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; SCN5A GENE; ST SEGMENT ELEVATION;

ADULT; AGED; BASE SEQUENCE; BUNDLE-BRANCH BLOCK; FEMALE; HUMANS; JAPAN; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN CONFORMATION; RECOMBINANT PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SODIUM CHANNELS;

EID: 3843095882     PISSN: 13469843     EISSN: None     Source Type: Journal    
DOI: 10.1253/circj.68.740     Document Type: Article

References (21)

1. 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: 1342-1347.
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: 1114-1118.
3. Nademanee K. Sudden unexplained death syndrome in Southeast Asia. Am J Cardiol 1997; 79: 10-11.
4. Nademanee K, Veerakul G, Nimmannit S, Chaowakul V, Bhuripanyo K, Likittanasombat K, et al. Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. Circulation 1997; 96: 2595-2600.
5. Matsuo K, Akahoshi M, Nakashima E, Suyama A, Seto S, Hayano M, et al. The prevalence, incidence and prognostic value of the Brugada-type electrocardiogram: A population-based study of four decades. J Am Coll Cardiol 2001; 38: 765-770.
6. Wilde AA, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P, et al. Proposed diagnostic criteria for the Brugada syndrome: Consensus report. Circulation 2002; 106: 2514-2519.
7. Atarashi H, Ogawa S. New ECG criteria for high-risk Brugada syndrome. Circ J 2003; 67: 8-10.
8. 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.
9. Iwasa H, Itoh T, Nagai R, Nakamura Y, Tanaka T. Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet 2000; 45: 182-183.
10. Priori SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Brignole M, et al. Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation 2000; 102: 2509-2515.
11. Napolitano C, Rivolta I, Priori SG. Cardiac sodium channel diseases. Clin Chem Lab Med 2003; 41: 439-444.
12. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998; 392: 293-296.
13. 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-E83.
14. Dumaine R, Towbin JA, Brugada P, Vatta M, Nesterenko DV, Nesterenko VV, et al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 1999; 85: 803-809.
15. 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: 507-517.
16. Wang DW, Makita N, Kitabatake A, Balser JR, George AL Jr. Enhanced Na(+) channel intermediate inactivation in Brugada syndrome. Circ Res 2000; 87: E37-E43.
17. Furuhashi M, Uno K, Tsuchihashi K, Nagahara D, Hyakukoku M, Ohtomo T, et al. Prevalence of asymptomatic ST segment elevation in right precordial leads with right bundle branch block (Brugada-type ST shift) among the general Japanese population. Heart 2001; 86: 161-166.
18. Smits JP, Eckardt L, Probst V, Bezzina CR, Schott JJ, Remme CA, et al. Genotype-phenotype relationship in Brugada syndrome: Electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol 2002; 40: 350-356.
19. Morita H, Takenaka-Morita S, Fukushima-Kusano K, Kobayashi M, Nagase S, Kakishita M, et al. Risk stratification for asymptomatic patients with brugada syndrome. Circ J 2003; 67: 312-316.
20. 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.
21. Weiss R, Barmada MM, Nguyen T, Seibel JS, Cavlovich D, Kornblit CA, et al. Clinical and molecular heterogeneity in the Brugada syndrome: A novel gene locus on chromosome 3. Circulation 2002; 105: 707-713.