C-terminal HERG mutations: The role of hypokalemia and a KCNQ1- associated mutation in cardiac event occurrence

Circulation

Volumn 99, Issue 11, 1999, Pages 1464-1470

  Berthet, Myriam ^a   Denjoy, Isabelle ^b   Donger, Claire ^a   Demay, Laurence ^a   Hammoude, Hicham ^c   Klug, Didier ^c   Schulze Bahr, Eric ^c   Richard, Pascale ^a   Funke, Harald ^c   Schwartz, Ketty ^a   Coumel, Philippe ^b   Hainque, Bernard ^a   Guicheney, Pascale ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c NONE

Author keywords

Hypokalemia; Long QT syndrome; LQT1; LQT2; Torsade de pointes

Indexed keywords

ADENINE; CYCLIC NUCLEOTIDE; GUANINE; POTASSIUM; POTASSIUM CHANNEL;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; FEMALE; GENE INSERTION; GENE MUTATION; HEART REPOLARIZATION; HETEROZYGOSITY; HUMAN; HYPOKALEMIA; LONG QT SYNDROME; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TORSADE DES POINTES;

EID: 0033596882     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.99.11.1464     Document Type: Article

References (31)

1. Keating M, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science. 1991;252:704-706.
2. Jiang C, Atkinson D, Towbin JA, Splawski I, Lehmann MH, Li H, Timothy K, Taggart RT, Schwartz PJ, Vincent GM, Moss AJ, Keating MT. Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet. 1994;8:141-147.
3. Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP, Le Marec H, Pascal O. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet. 1995;57:1114-1122.
4. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995;80:795-803.
5. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen S, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Towbin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating M. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996;12:17-23.
6. Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, Rubie C, Hördt M, Towbin J, Borggrefe M, Assmann G, Qu X, Somberg J, Breithardt G, Oberti C, Funke H. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet. 1997;17:267-268.
7. Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor J, Bathen J, Aslaksen B, Sorland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. IsK and KVLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet. 1997;6: 2179-2185.
8. Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating M. Mutations in the hminK gene cause long QT syndrome and suppress Iks function. Nat Genet. 1997;17:338-340.
9. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995;80:1-20.
10. Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet. 1998;18:53-55.
11. Towbin JA, Li H, Taggart RT, Lehmann MH, Schwartz PJ, Satler CA, Ayyagari R, Robinson JL, Moss A, Hejtmancik JF. Evidence of genetic heterogeneity in Romano-Ward long-QT syndrome: analysis of 23 families. Circulation. 1994;90:2635-2644.
12. Dausse E, Denjoy I, Kahlem P, Bennaceur M, Fauré S, Weissenbach J, Coumel P, Schwartz K, Guicheney P. Readjusting the localization of long QT syndrome gene on chromosome 11p15. C R Acad Sci III. 1995;318: 879-885.
13. Tanaka T, Nagai R, Tomoike H, Takata S, Yano K, Yabuta K, Haneda N, Nakano O, Shibata A, Sawayama T, Kasai H, Yasaki Y, Nakamura Y. Four novel KVLQTI and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997;95:565-567.
14. Li H, Chen Q, Moss AJ, Robinson J, Goytia V, Perry JC, Vincent M, Priori S, Lehmann MH, Denfield SW, Duff D, Kaine S, Shimizu W, Schwartz PJ, Wang Q, Towbin JA. New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation. 1998;97: 1264-1269.
15. Saarinen K, Swan H, Kainulainen K, Tovonen L, Viitasalo M, Kontula K. Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Hum Mutat. 1998;11:118-165.
16. Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M, Chivoret G, Schwartz K, Coumel P, Guicheney P. KvLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997;96:2778-2781.
17. Chouabe C, Neyroud N, Guicheney P, Lazdunski M, Romey G, Barhanin J. Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 1997; 16:5472-5479.
18. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. A novel mutation in the K+ channel KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997;15:186-189.
19. Satler C, Walsh E, Vesely M, Plummer M, Ginsburg G, Jacob H. Novel missense mutation in the cyclic nucleotide-binding domain ot HERG causes long QT syndrome. Am J Med Genet. 1996;65:27-35.
20. Itoh T, Tanaka T, Nagai R, Kamiya T, Sawayama T, Nakayama T, Tomoike H, Sakurada H, Yazaki Y, Nakamura Y. Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet. 1998;102:402-439.
21. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature. 1996;380:152-154.
22. Vignal A, Gyapay G, Hazan J, Nguyen S, Dupraz C, Cheron N, Becuwe N, Tranchant M, Weissenbach J. Non-radioactive multiplex procedure for genotyping of microsatellite markers. In: Adolph. KW, ed. Methods in Molecular Genetics. New York: Academic Press; 1993:211-221.
23. Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann M, Keating M. Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998;51:86-97.
24. Lees-Miller J, Kondo C, Wang L, Duff H. Electrophysiological characterization of an alternatively processed ERG K+ channel in mouse and human hearts. Circ Res. 1997;81:719-726.
25. Scamps F, Carmeliet E. Delayed K+ current and external K+ in single cardiac Purkinje cells. Am J Physiol. 1989;257:C1086-C1092.
26. Sanguinetti MC, Jurkiewicz NK. Role of external Ca2+ and K+ in gating of cardiac delayed rectifier K+ currents. Pflügers Arch. 1992;420: 180-186.
27. Sanguinetti MC, Jiang C, Curran ME, Keating MT. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the Ikr potassium channel. Cell. 1995;81:299-307.
28. Compton SJ, Lux RL, Ramsey MR, Strelich KR, Sanguinetti MC, Green LS, Keating MT, Mason JW. Genetically defined therapy of inherited long-QT syndrome. Correction of abnormal repolarization by potassium. Circulation. 1996;94:1018-1022.
29. Yang T, Roden DM. Extracellular potassium modulation of drug block of Ikr: implications for torsade de pointes and reverse use-dependence. Circulation. 1996;93:407-411.
30. Moss AJ, Zareba W, Benhorin J, Locati EH, Jackson Hall W, Robinson JL, Schwartz PJ, Towbin JA, Vincent GM, Lehmann MH, Keating MT, MacCluer JW, Timothy KW. ECG T-wave patterns in genetically distinct forms of the hereditary long-QT syndrome. Circulation. 1995;92: 2929-2934.
31. Dausse E, Berthet M, Denjoy I, André-Fouet X, Cruaud C, Bennaceur M, Fauré S, Coumel P, Schwartz K, Guicheney P. A mutation in HERG associated with notched T-waves in Long QT syndrome. J Mol Cell Cardiol. 1996;28:1609-1615.