Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome

American Journal of Medical Genetics

Volumn 65, Issue 1, 1996, Pages 27-35

  Satler, Carol Ann ^a,c   Walsh, Edward P ^a,c   Vesely, Mark R ^a,c   Plummer, Mark H ^a,c   Ginsburg, Geoffrey S ^a,b,c   Jacob, Howard J ^d  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

arrhythmias; cyclic nucleotide binding domain; linkage; long QT syndrome; missense mutation; potassium channel

Indexed keywords

ADENINE; CYCLIC NUCLEOTIDE; DNA; GUANINE; METHIONINE; NUCLEOTIDE BINDING PROTEIN; POTASSIUM CHANNEL; VALINE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 7Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE MAPPING; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HEART REPOLARIZATION; HEART VENTRICLE TACHYCARDIA; HUMAN; LONG QT SYNDROME; MALE; MISSENSE MUTATION; MULTIGENE FAMILY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN DOMAIN;

ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; BINDING SITES; CATION TRANSPORT PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; DNA-BINDING PROTEINS; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; HUMANS; LINKAGE (GENETICS); LONG QT SYNDROME; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEOTIDES, CYCLIC; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; PROTEIN CONFORMATION; TRANS-ACTIVATORS;

EID: 0029793031     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961002)65:1<27::AID-AJMG4>3.0.CO;2-V     Document Type: Article

References (38)

1. Bazett HC (1920): An analysis of the time-relations of electrocardiograms. Heart 7:353-370.
2. Benhorin J, Kalman Y, Medina A, Towbin J, Rave-Harel N, Dyer T, Blangero J, MacCluer J, Kerem B (1993): Evidence of genetic heterogeneity in the long QT syndrome. Science 260:1960-1962.
3. Benson DW, MacRae CA, Vesely MR, Walsh EP, Seidman JG, Seidman CE, Satler CA (1996): Missense mutation in the pore region of HERG causes familial long QT syndrome. Circulation 93:1791-1795.
4. 2+ and modulated by cAMP. Nature 365:445-448.
5. Buetow K, Ludwigsen S, Scherpbier-Heddema T, et al. (1994): Human Genetic Map. Genome maps V. Science 265:2055-2070.
6. Cottingham R, Idury R, Schaffer A (1993): Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263.
7. Curran M, Atkinson D, Timothy K, Vincent GM, Moss AJ, Leppert M, Keating M (1993): Locus heterogeneity of autosomal dominant long QT syndrome. J Clin Invest 92:799-803.
8. Curran ME, Splawski I, Timothy K, Vincent GM, Green ED, Keating MT (1995): A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80:795-803.
9. Gyapay G, Morissette J, Vignal A, et al. (1994): The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339.
10. Jackman WM, Friday KJ, Anderson JL, Aliot EM, Clark M, Lazarra R (1988): The long QT syndromes: A critical review, new clinical observations and a unifying hypothesis. Prog Cardiovasc Dis 31: 115-172.
11. Jacob HJ, Brown DM, Bunker RK, Daly MJ, Dzau VJ, Goodman A, Koike G, Kren V, Kurtz T, Lernmark A, Levan G, Mao Y, Fettersson A, Pravenec M, Simon JS, Szpirer C, Szpirer J, Trolliet MR, Winer ES, Lander ES (1995): A genetic linkage map of the laboratory rat, Rattus norvegicus. Nat Genet 9:63-69.
12. Jervell A, Lange-Nielsen F (1957): Congenital deaf-mutism, functional heart disease with prolongation of the QT interval and sudden death. Am Heart J 54:59-68.
13. Jiang C, Atkinson D, Towbin JA, Splawski I, Lehmann MH, Li H, Timothy K, Taggart RT, Schwartz PJ, Vincent GM, Moss AJ, Keating MT (1994): Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet 8: 141-147.
14. Keating MT (1995): Genetic approaches to cardiovascular disease: Supravalvular aortic stenosis, Williams syndrome, and long QT syndrome. Circulation 92:142-147.
15. Keating MT, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M (1991a): Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 252:704-706.
16. Keating MT, Dunn C, Atkinson D, Timothy K, Vincent G, Leppert M (1991b): Consistent linkage of the long-QT syndrome to the Harvey Acts-1 locus on chromosome 11. Am J Hum Genet 49: 1335-1339.
17. Lathrop G, Lalouel J, Julier C, Ott J (1984): Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81: 3443-3446.
18. Moore D (1994): Preparation and analysis of DNA. In Ausubel F, Brent R, Kingston R, Moore D, Seidman J, Smith J, Struhl K, Albright L, Coen D, Varki A (eds): "Current Protocols in Molecular Biology." New York: John Wiley and Sons, Inc., pp 2.0.1-2.14.7.
19. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989): Detection of polymorphisms of human DNA by gel electrophoresis as single strand confirmation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770.
20. Ptacek L, George A, Griggs R, Tawill R, Kallen R, Barchi R, Robertson M, Leppert M (1991): Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67:1021-1027.
21. Romano C, Gemme G, Pongiglione R (1963): Aritmie cardiache rare dell'età pediatrica, II: Accessi sincopali per fribrillazione ventricolare parossistica. Clin Pediatr (Bologna) 45:656-683.
22. KR potassium channel. Cell 81:299-307.
23. +-channel dysfunction in an inherited cardiac arrhythmia. Proc Natl Acad Sci USA 93:2208-2212.
24. Schaffer A, Gupta S, Shriram K, Cottingham R (1994): Avoiding recomputation in genetic linkage analysis. Hum Hered 44: ??-??.
25. Schott J, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour J, Donnelly P, Vergnaud G, Bachner L, Moisan J, Le Marec H, Pascal O (1995): Mapping of a gene for long QT syndrome to chromosome 4q25-q27. Am J Hum Genet 57:1114-1122.
26. Schwartz PJ (1985): Idiopathic long QT syndrome: Progress and questions. Am Heart J 109:399-411.
27. Schwartz PJ, Moss AJ, Vincent GM, Crampton RS (1993): Diagnostic criteria for the long QT syndrome. Circulation 88:782-784.
28. Schwartz PJ, Locati EH, Napolitano C, Priori SG (1995): The long QT syndrome. In Zipes DP, Jalife J (eds): "Cardiac Electrophysiology: From Cell to Bedside." Philadelphia: W. B. Saunders Co., pp 788-811.
29. Smith P, Baukrowitz T, Yellen G (1996): The inward rectification mechanism of the HERG cardiac potassium channel. Nature 379:833-836.
30. Towbin J, Hua L, Taggart R, Lehmann M, Schwartz P, Satler C, Ayyagari R, Robinson J, Moss A, Hejtmancik F (1994): Evidence of genetic heterogeneity in Romano-Ward syndrome: Analysis of 23 families. Circulation 90:2635-2644.
31. Trudeau M, Warmke J, Ganetsky B, Robertson G (1995): HERG, a human inward rectifier in the voltage gated potassium channel family. Science 269:92-95.
32. Wang Q, Shen J, Li Z, Timothy K, Vincent G, Priori S, Schwartz P, Keating M (1995a): Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet 4:1603-1607.
33. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT (1995b): SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80:805-811.
34. Wang Q, Curran M, Splawski I, Burn T, Millholland J, VanRaay T, Shen J, Timothy K, Vincent G, deJager T, Schwartz P, Towbin J, Moss A, Atkinson D, Landes G, Connors T, Keating M (1996): Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12:17-23.
35. Ward OC (1964): A new familial cardiac syndrome in children. J Ir Med Assoc 54:103-106.
36. Warmke J, Ganetzky B (1993): A family of potassium channel genes related to eag in Drosophila and mammals. Proc Natl Acad Sci USA 91:3438-3442.
37. Weitkainp L, Moss A, Lewis R, Hall W, MacCluer J, Schwartz P, Locati E, Tzivoni D, Vincent G, Robinson J, Guttormsen S (1994): Analysis of HLA and disease susceptibility: Chromosome 6 genes and sex influence long-QT phenotype. Am J Hum Genet 55:1230-1241.
38. Zipes D (1987): Proarrhythmic effects of antiarrhythmic drugs. Am J Cardiol 59:26E-31E.