Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis

Clinical Biochemistry

Volumn 42, Issue 6, 2009, Pages 491-499

  Millat, Gilles ^a,b   Chanavat, Valérie ^a   Rodriguez Lafrasse, Claire ^a,b   Rousson, Robert ^a,b  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ LYON 1   (France)

Author keywords

Cardiovascular disorders; DHPLC; High resolution melting; Mutations; Polymorphisms; SCN5A

Indexed keywords

DNA;

ARTICLE; BACTERIAL GENE; CLINICAL ARTICLE; COHORT ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEMALE; GENE; GENE IDENTIFICATION; GENETIC VARIABILITY; HIGH THROUGHPUT SCREENING; HUMAN; MALE; MELTING POINT; METHODOLOGY; MUTATION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SCN5 A GENE; SCREENING;

EID: 62149125915     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2008.10.014     Document Type: Article

References (31)

1. Viswanathan P.C. SCN5A-linked disease syndrome: complex monogenic disorders of cardiac rhythm. Future Cardiol. 1 (2005) 29-38
2. Remme C.A., Wilde A.A., and Bezzina C.R. Cardiac sodium channel overlap syndromes: Different faces of SCN5A mutations. Trends Cardiovasc. Med. 18 (2008) 78-87
3. Chen Q., Kirsch G.E., Zhang D., et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392 (1998) 293-296
4. Nguyen T.P., Wang D.W., Rhodes T.H., and George Jr. A.L. Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. Circ. Res. 102 (2008) 364-371
5. Hesse M., Kondo C.S., Clark R.B., et al. Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a. Cardiovasc. Res. 75 (2007) 498-509
6. Schott J.J., Alshinawi C., Kyndt F., et al. Cardiac conduction defects associate with mutations in SCN5A. Nat. Genet. 23 (1999) 20-21
7. Wang D.W., Viswanathan P.C., Balser J.R., George Jr. A.L., and Benson D.W. Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation 105 (2002) 341-346
8. + channel mutation causing both long-QT and Brugada syndromes. Circ. Res. 85 (1999) 1206-1213
9. Grant A.O., Carboni M.P., Neplioueva V., Starmer, et al. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J. Clin. Invest. 110 (2002) 1201-1209
10. Ellinor P.T., Nam E.G., Shea M.A., Milan D.J., Ruskin J.N., and MacRae C.A. Cardiac sodium channel mutation in atrial fibrillation. Heart Rhythm 5 (2008) 99-105
11. Darbar D., Kannankeril P.J., Donahue B.S., et al. Cardiac Sodium Channel (SCN5A) variants associated with atrial fibrillation. Circulation 117 (2008) 1927-1935
12. Ackerman M.J., Siu B.L., Sturner W.Q., et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 286 (2001) 2264-2269
13. Wang D.W., Desai R.R., Crotti L., et al. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation 115 (2007) 368-376
14. Arnestad M., Crotti L., Rognum T.O., et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 115 (2007) 361-367
15. Ning L., Moss A., Zareba W., et al. Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome. Genet. Test. 7 (2003) 249-253
16. Napolitano C., Priori S.G., Schwartz P.J., et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 294 (2005) 2975-2980
17. Lai L.P., Su Y.N., Hsieh F.J., et al. Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J. Hum. Genet. 50 (2005) 490-496
18. Tester D.J., Cronk L.B., Carr J.L., et al. Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. Heart Rhythm 3 (2006) 815-821
19. Fodstad H., Bendahhou S., Rougier J.S., et al. Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients. Ann. Med. 38 (2006) 294-304
20. Millat G., Chevalier P., Restier-Miron L., et al. Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin. Genet. 70 (2006) 214-227
21. Reed G.H., Kent J.O., and Wittwer C.T. High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8 (2007) 597-608
22. Akai J., Makita N., Sakurada H., et al. A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett. 479 (2000) 29-34
23. Shirai N., Makita N., Sasaki K., et al. A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. Cardiovasc. Res. 53 (2002) 348-354
24. Wang D.W., Yazawa K., George Jr. A.L., and Bennett P.B. Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome. Proc. Natl. Acad. Sci. U. S. A. 93 (1996) 13200-13205
25. Wang Q., Shen J., Li Z., et al. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum. Mol. Genet. 4 (1995) 1603-1607
26. Tester D.J., Will M.L., Haglund C.M., and Ackerman M.J. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2 (2005) 507-517
27. Priori S.G., Napolitano C., Gasparini M., et al. Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: a prospective evaluation of 52 families. Circulation 102 (2000) 2509-2515
28. Mohler P.J., Rivolta I., Napolitano C., et al. Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 17533-17538
29. Lin S.Y., Su Y.N., Hung C.C., et al. Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM. BMC Med. Genet. 9 (2008) 53
30. Sestini R., Provenzano A., Bacci C., et al. NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. Genet. Test. 12 (2008) 311-318
31. Audrezet M.P., Dabricot A., Le Marechal C., and Ferec C. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J. Mol. Diagn. 10 (2008) 424-434