A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: A community-based approach to understanding the impact

Genetics in Medicine

Volumn 10, Issue 7, 2008, Pages 545-550

  Arbour, Laura ^a   Rezazadeh, Saman ^a   Eldstrom, Jodene ^a   Weget Simms, Gwen ^a   Rupps, Rosemarie ^a   Dyer, Zoe ^a   Tibbits, Glen ^b   Accili, Eric ^a   Casey, Brett ^a   Kmetic, Andrew ^c   Sanatani, Shubhayan ^a   Fedida, David ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b SIMON FRASER UNIVERSITY   (Canada)

^c UNIVERSITY OF VICTORIA   (Canada)

Author keywords

Community based participatory research; KCNQ1; Long QT syndrome; North American Indian; V205M

Indexed keywords

POTASSIUM CHANNEL KCNQ1; KCNQ1 PROTEIN, HUMAN;

ADULT; AGED; ANIMAL CELL; ARTICLE; CANADA; CONTROLLED STUDY; DISEASE PREDISPOSITION; GENE SEQUENCE; GENOTYPE; HEART VENTRICLE ARRHYTHMIA; HUMAN; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOUSE; NONHUMAN; PATCH CLAMP; QT INTERVAL; QT PROLONGATION; SUDDEN DEATH; AMERICAN INDIAN; ANIMAL; COMPARATIVE STUDY; DNA SEQUENCE; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; PEDIGREE;

ANIMALS; BRITISH COLUMBIA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIANS, NORTH AMERICAN; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MICE; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 52049114935     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31817c6b19     Document Type: Article

References (44)

1. Keating MT, Sanguinetti MC. Molecular and cellular mechanisms of cardiac arrhythmias. Cell 2001;104:569-580.
2. Ackerman MJ. Cardiac channelopathies: it's in the genes. Nat Med 2004;10:463-464.
3. Modell SM, Lehmann MH. The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med 2006;8:143-155.
4. Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC. Compound mutations: a common cause of severe long QT syndrome. Circulation 2004;109:1834-1841.
5. Schulze-Bahr E. Arrhythmia predisposition: between rare disease paradigms and common ion channel gene variants. J Am Coll Cardiol 2006;48:A67-A78.
6. Gargus JJ. Unravelling monogenic channelopathies and their implications for complex polygenic disease. Am J Hum Genet 2003;72:785-803.
7. Kr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999;97:175-187.
8. Schwartz P. The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med 2006;259:39-47.
9. American College of Cardiology, American Heart Association Task Force, European Society of Cardiology. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death - executive summary: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines. Circulation 2006;114:1088-1132.
10. Chiang C. Congenital and acquired long QT syndrome: current concepts and management. Cardiol Res 2004;12:222-234.
11. Piippo K, Swan H, Pasternack M, et al. A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol 2001;37:562-568.
12. Brink PA, Crotti L, Corfield V, et al. Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation 2005;112:2602-2610.
13. Okin PM, Devereux RB, Howard BV, Fabsitz RR, Lee ET, Welty TK. Assessment of QT interval and QT dispersion for prediction of all-cause and cardiovascular mortality in American Indians: the Strong Heart Study. Circulation 2000;101:61-66.
14. K5 potassium channel. Nature 1996;384:80-83.
15. K5 cardiac potassium current. Nature 1996;384:78-80.
16. Romey G, Attali B, Chouabe C, et al. Molecular mechanism and functional significance of the MinK control of the KvLQT1 channel activity. J Biol Chem 1997;272:16713-16716.
17. Shalaby FY, Levesque PC, Yang WP, et al. Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation 1997;96:1733-1736.
18. Dahimene S, Alcolea S, Naud P, et al. The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome. Circ Res 2006;99:1076-1083.
19. Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A. A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. Cardiovasc Res 2001;51:670-680.
20. Ks suppression in LQT1 mutants. Am J Physiol Heart Circ Physiol 2000;279:H3003-H3011.
21. Boulet IR, Raes AL, Ottschytsch N, Snyders DJ. Functional effects of a KCNQ1 mutation associated with the long QT syndrome. Cardiovasc Res 2006;70:466-474.
22. Chouabe C, Neyroud N, Richard P, et al. Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. Cardiovasc Res 2000;45:971-980.
23. + channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J 1997;16:5472-5479.
24. Arbour L, Cook D. DNA on loan: issues to consider when carrying out genetic research with Aboriginal families and communities. Community Genef 2006;9:153-160.
25. Macaulay AC, Commanda LE, Freeman WL, et al. Participatory research maximizes community and lay involvement. BMJ 1999;319:774-778.
26. Israel B, Schulz AJ, Parker EA, Becker AB. Community based participatory research: policy recommendations for promoting a partnership approach in health research. Educ Health 2001;14:182-197.
27. Bazett HC. An analysis of the time-relations of electrocardiograms. Heart 1920;7: 353-370.
28. Lepeschkin E, Surawicz B. The measurement of the Q-T interval of the electrocardiogram. Circulation 1952;6:378-388.
29. Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT. Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics 1998;51:86-97.
30. Syrris P, Murray A, Carter ND, McKenna WM, Jeffery S. Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions. J Med Genet 2001;38:705-710.
31. Musso M, Bocciardi R, Parodi S, Ravazzolo R, Ceccherini I. Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. J Mol Diagn 2006;8:544-550.
32. Akyol M, Jalilzadeh S, Sinner MF, et al. The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study. Eur Heart J 2007;28:305-309.
33. Makielski J, Ye B, Valdivia CR, et al. A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A Heart Sodium Channel. Circ Res 2003;93:821-828.
34. Ks in human ventricular muscle. Circulation 2005;112:1392-1399.
35. Napolitano C, Priori SG, Schwartz PJ, et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005;294:2975-2980.
36. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: clinical impact. Circulation 1999;99:529-533.
37. Hofman N, Wilde AA, Kaab S, et al. Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? Eur Heart J 2007;28:575-580.
38. Kaab S, Pfeufer A, Hinterseer M, Nabauer M, Schulze-Bahr E. Long QT syndrome: why does sex matter? Z Kardiol 2004;93:641-645.
39. Imboden M, Swan H, Denjoy I, et al. Female predominance and transmission distortion in the long-QT syndrome. N Engl J Med 2006;355:2744-2751.
40. Roden DM. Long-QT syndrome. N Engl J Med 2008;358:169-176.
41. Schwartz PJ, Vanoli E, Crotti L, et al. Neural control of heart rate is an arrhythmia risk modifier in LQTS. J Am Coll Cardiol 2008;51:920-929.
42. Flicker S, Savan B, Kolenda B, Mildenberger M. A snapshot of community-based research in Canada: who? what? why? how? Health Educ Res 2008;23:106-114.
43. Canadian Institutes of Health Research. CIHR guidelines for health research involving aboriginal people. Ottawa, Ontario; 2007. Available at: http://www.cihr-irsc.gc.ca/e/29134.html. Accessed April 8, 2008.
44. Tester DJ, Ackerman MJ. Sudden infant death syndrome: how significant are the channelopathies? Cardiovasc Res 2005;67:388-396.