Identical twins with long QT syndrome associated with a missense mutation in the S4 region of the HERG

Japanese Heart Journal

Volumn 41, Issue 3, 2000, Pages 399-404

  Hayashi, Kenshi ^a   Shimizu, Masami ^a   Ino, Hidekazu ^a   Okeie, Kazuyasu ^a   Yamaguchi, Masato ^a   Yasuda, Toshihiko ^a   Fujino, Noboru ^a   Fujii, Hiroyuki ^a   Fujita, Shinichiro ^a   Mabuchi, Hiroshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

Author keywords

HERG gene mutation; Identical twin; Long QT syndrome; LQTS; Romano Ward Syndrome

Indexed keywords

ION CHANNEL;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILIAL DISEASE; HEART REPOLARIZATION; HEART VENTRICLE; HUMAN; HUMAN CELL; JAPAN; LONG QT SYNDROME; MALE; MISSENSE MUTATION; MONOZYGOTIC TWINS; PRIORITY JOURNAL; SYNCOPE;

EID: 0033883396     PISSN: 00214868     EISSN: None     Source Type: Journal    
DOI: 10.1536/jhj.41.399     Document Type: Article

References (20)

1. Moss AJ, Schwartz PJ, Crampton RS, et al. The long QT syndrome: prospective longitudinal study of 328 families. Circulation 1991; 84: 1136-44.
2. 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: 704-6.
3. Jiang C, Atkinson D, Towbin JA, et al. Two long QT syndrome loci map to chromosome 3 and 7 with evidence for further heterogeneity. Nat Genet 1994; 8: 141-7.
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, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80: 805-11.
6. Schott J, Charpentier F, Peltier S, et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet 1995; 57: 1114-22.
7. Wang Q, Curran ME, Splawski I, et al. Positional cloning of a novel potassium channel gene:KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996; 12: 17-23.
8. Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT. Mutations in the hminK gene cause long QT syndrome and suppress Iks function. Nat Genet 1997; 17: 338-340.
9. kr potassium channels with HERG and is associated with cardiac arrhythmia. Call 1999; 97: 175-87.
10. Greenspon AJ, Kidwell GA, Barrasse LD, Hessen SE, Giudici M. Hereditary long QT syndrome associated with cardiac conduction system disease. PACE 1989; 12: 479-85.
11. Jacobson J, Jacobson C, Francis P. Congenital hearing loss in Jervell and Lange-Nielsen syndrome. J Am Acad Audiol 1990; 1: 171-3.
12. Wilknson C, Gyaneshwar R, Mccusker C. Twin pregnancy in a patient with idiopathic long QT syndrome. Case report. Br J Obstet Gynaecol 1991; 98: 1300-2.
13. Russell MW, Dick MII, Collins FS, Brody LC. KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Hum Molec Genet 1996; 5: 1319-24.
14. Schwartz PJ, Moss AJ, Vincent GM, Crampton RS. Diagnostic criteria for the long QT syndrome: an update. Circulation 1993; 88: 782-4.
15. Haliassos A, Chomel JC, Tesson L, et al. Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res 1989; 17: 3606.
16. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutation and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874-9.
17. Mohabeer AJ, Hiti AL, Martin WJ. Non-radioactive single strand conformation polymorphism (SSCP) using the Pharmacia 'PhastSystem'. Nucleic Acids Res 1991; 19: 3154.
18. Itoh T, Tanaka T, Nagai R, et al. Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet 1998; 102: 435-9.
19. Nakajima T, Misu K, Iwasawa K, et al. Auditory stimuli as a major cause of syncope in a patient with idiopathic long QT syndrome. Jpn Circ J 1995; 59: 241-6.
20. Wilde AAM, Jongbloed RJE, Doevendans PA, 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.