Phenotype reveals genotype in a Greek long QT syndrome family

Europace

Volumn 8, Issue 4, 2006, Pages 241-244

  Anastasakis, Aris ^a   Kotta, Christina Maria ^a   Kyriakogonas, Stavros ^a   Wollnik, Bernd ^b   Theopistou, Artemisia ^a   Stefanadis, Christodoulos ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Genotype; Long QT syndrome; Phenotype; Syncope

Indexed keywords

ALANINE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; POTASSIUM CHANNEL KCNQ1; VALINE;

ARTICLE; CASE REPORT; DIAGNOSTIC VALUE; FAMILY STUDY; GENE MUTATION; GENE POOL; GENOTYPE PHENOTYPE CORRELATION; GREECE; HUMAN; LONG QT SYNDROME; MALE; MUTATIONAL ANALYSIS; PREDICTION; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; ELECTROCARDIOGRAPHY; GENOTYPE; GREECE; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 33745206492     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/eul012     Document Type: Article

References (20)

1. Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG et al. Influence of genotype on the clinical course of the long QT syndrome. N Engl J Med 1998;339:960-5.
2. Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001; 103:89-95.
3. Wilde AA, Jongbloed RJ, Doevendans PA, Duren DR, Hauer RN, van Langen IM et al. Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1). J Am Coll Cardiol 1999;33:327-32.
4. Priori SG, Mortara DW, Napolitano C, Diehl L, Paganini V, Cantu F et al. Evaluation of the spatial aspects of T-wave complexity in the long QT syndrome. Circulation 1997;96:3006-12.
5. Zhang L, Timothy KW, Vincent M, Lehmann M, Fox J, Giuli LC et al. Spectrum of ST-T wave patterns and repolarization parameters in congenital long QT syndrome. Circulation 2000;102:2849-55.
6. Locati EH, Zareba W, Moss AJ, Schwartz PJ, Vincent M, Lehmann MH et al. Age and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome. Circulation 1998;97:2237-44.
7. Schwartz PJ, Moss AJ, Vincent GM, Crampton RS. Diagnostic criteria for the long QT syndrome. An update. Circulation 1993;88:782-4.
8. Neyroud N, Richard P, Vignier N, Donger C, Denjoy I, Demay L et al. Genomic organization of the KCNQ1 K1 channel gene and identification of C-terminal mutations in the long QT syndrome. Circ Res 1999;84:290-7.
9. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996;12:17-23.
10. Russell MW, Dick M, Collins FS, Brody LC. KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Hum Mol Genet 1996;5:1319-24.
11. Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M et al. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation 1997;96:2778-81.
12. Li H, Chen Q, Moss AJ, Robinson J, Goytia V, Perry JC et al. New mutations in the KVLQT1 potassium channel that cause long QT syndrome. Circulation 1998;97:1264-9.
13. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000;102:1178-85.
14. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long QT syndrome: Clinical impact. Circulation 1999;99:529-33.
15. Karvouni E, Anastasakis A, Spiliopoulou C, Protonotarios N, Theopistou A, Rigopoulos A et al. Sudden death in children and young adults: Still cases of unknown cause. Eur Heart J 2002.
16. Wever EF, Robles de Medina EO. Sudden death in patients without structural heart disease. J Am Coll Cardiol 2004;43:1137-44.
17. Kobori A, Sarai N, Shimizu W, Nakamura Y, Murakami Y, Makiyama T et al. Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. J Cardiovasc Electrophysiol 2004; 15:190-9.
18. Zareba N, Moss AJ, Locati EH, Lehmann MH, Peterson DR, Hall WJ et al. Modulating effects of age and gender on the clinical course of long QT syndrome by genotype. J Am Coll Cardiol 2003;42:103-9.
19. Van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AAM. The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet 2003;40:141-5.
20. Ackerman MJ, Schroeder JJ, Berry R, Schaid DJ, Porter CJ, Michels VV, Thibodeau SN. A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. Pediatr Res 1998;44:148-53.