A Novel Mutation in Human Ether-a-Go-Go-Related Gene, Alanine to Proline at Position 490, Found in a Large Family With Autosomal Dominant Long QT Syndrome

American Journal of Cardiology

Volumn 99, Issue 12, 2007, Pages 1737-1740

  Pellegrino, Pier Luigi ^a   Bafunno, Valeria ^a   Ieva, Riccardo ^a   Brunetti, Natale Daniele ^a   Mavilio, Giovanni ^a   Sessa, Francesco ^a   Grimaldi, Massimo ^a   Margaglione, Maurizio ^a,b   Di Biase, Matteo ^a  

^a UNIVERSITY OF FOGGIA   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; POTASSIUM CHANNEL HERG; PROLINE; PROPRANOLOL; PRULIFLOXACIN; QUINOLINE DERIVED ANTIINFECTIVE AGENT;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ELECTROCARDIOGRAM; EMERGENCY WARD; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INTRON; LONG QT SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL; SYNCOPE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALANINE; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PROLINE; ROMANO-WARD SYNDROME;

EID: 34249910897     PISSN: 00029149     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.amjcard.2007.01.056     Document Type: Article

References (23)

1. Roden D.M., Lazzara R., Rosen M., Schwartz P.J., Towbin J., Vincent G.M., and for the SADS Foundation Task Force on L.Q.T.S. Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. Circulation 94 (1996) 1996-2012
2. Schwartz P.J. The long QT syndrome. Curr Prob Cardiol 226 (1997) 302-351
3. Schwartz P.J., Moss A.J., Vincent G.M., and Crampton R.S. Diagnostic criteria for the long QT syndrome. An update. Circulation 88 (1993) 782-784
4. Jervell A., and Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of QT interval and sudden death. Am Heart J 54 (1957) 59-68
5. Romano C., Gemme G., and Pongiglione R. Aritmie cardiache rare dell'età pediatrica. Clin Pediatr 45 (1963) 656-683
6. Ward O.C. A new familial cardiac syndrome in children. J Irish Med Assoc 54 (1964) 103-106
7. Hashiba K., Mitsuoka T., Mori M., and Kiya F. The QT prolongation syndrome: long-term follow-up study of 13 families with Romano-Ward syndrome. Heart Vessels Suppl 2 (1987) 47-55
8. Wang Q., Curran M.E., Splawski I., Burn T.C., Millholland J.M., VanRaay T.J., Shen J., Timothy K.W., Vincent G.M., de Jager T., et al. Positional cloning of a novel potassium channel gene: KCNQ1 mutations cause cardiac arrhythmias. Nat Genet 12 (1996) 17-23
9. Curran M.E., Splawski I., Timothy K.W., Vincent G.M., Green E.D., and Keating M.T. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80 (1995) 795-803
10. Splawski I., Tristani-Firouzi M., Lehmann M.H., Sanguinetti M.C., and Keating M.T. Mutations in the hKCNE1 gene cause long QT syndrome and suppress IKs function. Nat Genet 17 (1997) 338-340
11. Schulze-Bahr E., Wang Q., Wedekind H., Haverkamp W., Chen Q., Sun Y., Rubie C., Hordt M., Towbin J.A., Borggrefe M., et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet 17 (1997) 267-268
12. Abbott G.W., Sesti F., Splawski I., Buck M.E., Lehmann M.H., Timothy K.W., Keating M.T., and Goldstein S.A. MiRP1 forms Ikr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97 (1999) 175-187
13. Wang Q., Shen J., Splawski I., Atkinson D., Li Z., Robinson J.L., Moss A.J., Towbin J.A., and Keating M.T. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 (1995) 805-811
14. Schott J.J., Charpentier F., Peltier S., Foley P., Drouin E., Bouhour J.B., Donnelly P., Vergnaud G., Bachner L., Moisan J.P., et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet 57 (1995) 1114-1122
15. Mohler P.J., Schott J.J., Gramolini A.O., Dilly K.W., Guatimosim S., duBell W.H., Song L.S., Haurogne K., Kyndt F., Ali M.E., et al. Ankirin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421 (2003) 634-639
16. Andersen E.D., Krasilnikoff P.A., and Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?. Acta Paediatr Scand 60 (1971) 559-564
17. Splawski I., Timothy K., Sharpe M.L., Decher N., Kumar P., Bloise R., Napolitano C., Schwartz P.J., Joseph R.M., Condouris K., et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119 (2004) 19-31
18. Moss A.J., Zareba W., Benhorin J., Locati E.H., Hall W.J., Robinson J.L., Schwartz P.J., Towbin J.A., Vincent G.M., and Lehmann M.H. ECG T-wave patterns in genetically distinct form of the hereditary long QT syndrome. Circulation 92 (1995) 2929-2934
19. Margaglione M., Coalizzo D., D'Andrea G., Brancaccio V., Ciampa A., Grandone E., and Di Minno G. Genetic modulation of oral anticoagulation with warfarin. Thromb Haemost 84 (2000) 775-778
20. Lees-Miller J.P., Duan Y., Teng G.Q., Thorstad K., and Duff H.J. Novel gain-of-function mechanism in K(+) channel-related long-QT syndrome: altered gating and selectivity in the HERG1 N629D mutant. Circ Res 86 (2000) 507-513
21. Priori S.G., Napolitano C., and Schwartz P.J. Low penetrance in the long-QT syndrome. Circulation 99 (1999) 529-533
22. Moss A.J., Zareba W., and Kaufman E.S. Increased risk of arrhythmic events in long QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation 105 (2002) 794-799
23. Day C.P., Mc Comb J.M., and Campbell R.W.F. QT dispersion: an indication of arrhythmia risk in patients with long QT intervals. Br Heart J 63 (1990) 342-344