Mutational screening of SCN5A linked disorders in Polish patients and their family members

Journal of Applied Genetics

Volumn 45, Issue 3, 2004, Pages 383-390

  Moric Janiszewska, Ewa ^a   Herbert, Ernest ^a   Cholewa, Krzysztof ^a   Filipecki, Artur ^a   Trusz Gluza, Maria ^a   Wilczok, Tadeusz ^a  

^a MEDICAL UNIVERSITY OF SILESIA   (Poland)

Author keywords

Brugada Syndrome; Long QT Syndrome; mSSCP analysis; Mutation; SCN5A gene; Sodium channel

Indexed keywords

ADULT; ARTICLE; BRUGADA SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; DEFIBRILLATOR; DISEASE ASSOCIATION; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC PREDISPOSITION; GENETIC SCREENING; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE FIBRILLATION; HUMAN; INFANT DISEASE; LONG QT SYNDROME; MUTATIONAL ANALYSIS; PATHOGENESIS; PROGRESSIVE CARDIAC CONDUCTION DEFECT; SCN5A GENE; SODIUM CHANNEL; SUDDEN INFANT DEATH SYNDROME; SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME;

ADULT; ARRHYTHMIA; EXONS; FAMILY; HUMANS; INTRONS; LONG QT SYNDROME; MIDDLE AGED; MUTATION; POLAND; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SODIUM CHANNELS; VENTRICULAR FUNCTION, LEFT;

EID: 4644251150     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Kr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97: 175-187.
2. Balser J, 1999. Sodium "channelopathies" and sudden death: must you be so sensitive? Circ Res 85: 872-874.
3. Catterall WA, 1993. Structure and function of voltage-gated ion channels. Trends Neurosci 16: 500-506.
4. + channel mutations in a Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J 1617: 5472-5479.
5. Condie A, Eeles R, Borresen AL, Coles C, Cooper C, Prosser J, 1993. Detection of point mutations in the p53 gene: comparison of single strand conformation polymorphism, constant denaturant gradient electrophoresis, and hydroxylamine and osmium tetroxide technique. Hum Mutat 2: 58-66.
6. Daley GQ, Cargill M, 2001. The heart SNPs a beat: polymorphisms in candidate genes for cardio- vascular disease. Trends Cardiovasc Med 11: 60-66.
7. Deschenes I, Baroudi G, Berthet M, Barde I, Chalvidan T, Denjoy I et al. 2000. Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc. Res 46: 55-65.
8. Gellens ME, George AL Jr, Chen L, Chahine M, Horn R, Barchi RL, Kallen RG, 1992. Primary structure and functional expression of the human cardiac tetrodotoxin insensitive voltage dependent sodium channel. Proc Nat Acad Sci 89: 554-558.
9. George ALJr, Varkony TA, Drabkin HA, Han J, Knops JF, Finley WH et al. 1995. Assignment of the human heart tetrodotoxin resistant voltage gated Na(+) channel alpha subunit gene (SCN5A) to band 3p21. Cytogenet Cell Genet 68: 67-70.
10. Grant A, 2001. Molecular biology of sodium channels and their role in cardiac arrhythmias. Am J Med 110: 296-305.
11. Hartmann HA, Colom LV, Sutherland ML, Noebels JL, 1999. Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain. Nat Neurosci 2: 593-595.
12. Jongbloed R, Marcelis C, Velter C, Doevendans P, Geraedts J, Smeets H, 2002. DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat 20:382-391.
13. Moric E, Herbert E, Trusz-Gluza M, Filipecki A, Mazurek U, Wilczok T, 2003. Update of genetic mutations implicated with the sodium channel gene (SCN5A). Europace 5: 325-334.
14. Priori SG, Napolitano C, Schwartz PJ, Bloise R, Crotti L, Ronchetti E, 2000. The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation 102: 945-947.
15. Priori SG, Napolitano C, Gasparini M, Pappone C, Bella PD, Giordano U et al. 2002. Natural history of Brugada syndrome: Insights for risk stratification and management. Circulation 105: 1342-1347.
16. Priori SG, Napolitano C, Schwartz PJ, 1999. Low penetrance in the long QT syndrome: clinical impact. Circulation 99: 529-533.
17. Roses AD, 2000. Pharmacogenetics and the practice of medicine. Nature 405: 857-865.
18. Roses AD, 1998. Apolipoprotein E and Alzheimer's disease. The tip of the susceptibility iceberg. Ann NY Acad Sci 855: 738-743.
19. Saunders AM, Trowers MK, Shimkets RA, Blakemore S, Crowther DJ, Mansfield TA et al. 2000. The role of apolipoprotein E in Alzheimer's disease: pharmacogenomic target selection. Biochim Biophys Acta 1502: 85-94.
20. Schwartz PJ, Priori SG, Dumaine R, Napolitano C, Antzelevitch C, Stramba-Badiale M et al. 2000. A molecular link between the sudden infant death syndrome and the long QT syndrome. New Eng J Med 343: 262-267.
21. Sesti F, Abbott GW, Wei J, Murray KT, Saksena S, Schwartz PJ et al. 2000. A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci USA 97: 10613-10618.
22. Splawski I, Timothy K, Tateyama M, Clancy CE, Malhotra A, Beggs AH et al. 2002. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 297: 1333-1336.
23. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori SG, Robinson JL et al. 2000. Spectrum of mutations in long QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 102: 1178-1185.
24. Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT, 1998. Genomic structure of three Long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics 51: 86-97.
25. Syrris P, Murray A, Carter ND, McKenna WM, Jeffery S, 2001. Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions. J Med Genet 38: 705-10.
26. Vatta M, Li H, Towbin JA, 2000. Molecular biology of arrhythmic syndromes. Curr Opin Cardiol 15: 12-22.
27. Viswanathan C, Woodrow BD, Baiser JR, 2003. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest 111: 341-346.
28. Wang Q, Curran ME, Splawski I, Burn TC, MillHolland JM, Van Raay TJ et al. 1996. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12: 17-23.
29. Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT, 1995a. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet 4: 1603-1607.
30. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL et al. 1995b. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80: 805-811.
31. Weiss R, Barmada MM, Nguyen T, Seibel JS, Cavlovich D, Kornblit CA et al. 2002. Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. Ciruclation 105: 707-713.