Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous

Human Genetics

Volumn 100, Issue 5-6, 1997, Pages 573-576

  Schulze Bahr, E ^a,b   Haverkamp, W ^a,b   Wedekind, H ^a,b   Rubie, C ^b   Hordt M ^a   Borggrefe, M ^a,b   Assmann, G ^b   Breithardt, G ^a,b   Funke, H ^b  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; POTASSIUM CHANNEL;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL DEAFNESS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; LEBANON; LONG QT SYNDROME; PRIORITY JOURNAL;

CATION TRANSPORT PROTEINS; CHILD; DNA-BINDING PROTEINS; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LEBANON; LINKAGE (GENETICS); LONG QT SYNDROME; MALE; MICROSATELLITE REPEATS; PEDIGREE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE ANALYSIS, DNA; SODIUM CHANNELS; SYNDROME; TRANS-ACTIVATORS;

EID: 0031426535     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050554     Document Type: Article

References (20)

1. 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
2. Boyett MR, Harrison SM, Janvier NC, McMorn SO, Owen JM, Shui Z (1996) A list of vertebrate cardiac ion currents nomenclature, properties, function and cloned equivalents. Cardiovasc Res 32:455-481
3. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT (1995) A molecular basis for cardiac arrhythmia: HERO mutations cause long QT syndrome. Cell 80:795-803
4. Deal KK, England SK, Tamkun MM (1996) Molecular physiology of cardiac potassium currents. Physiol Rev 76:49-67
5. Fraser GR, Froggatt P. James TN (1964a) Congenital deafness associated with electrocardiographic abnormalities, fainting attacks and sudden death. Q J Med 33:361-385
6. Fraser GR, Froggatt P, Murphy T (1964b) Genetical aspects of the cardioauditory syndrome of Jervell and Lange-Nielsen (congenital deafness and electrocardiographic abnormalities). Ann Hum Genet 28:133-157
7. Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernadi G, Lathrop M, Weissenbach J (1994) The 1993-1994 genethon human linkage map. Nat Genet 7:246-339
8. Haverkamp W, Shenasa M, Borggrefe M, Breithardt G (1995) Torsade de pointes. In: Zipes DP, Jalife J (eds) Cardiac electrophysiology. From cell to bedside. Saunders, New York, pp 885-899
9. Higuchi R (1989) Simple and rapid preparation of samples for PCR. In: PCR technology: principles and applications for DNA amplification. Ehrlich HA (ed), Stockton Press, NY, pp 1-38
10. Jervell A (1985) The surdo-cardiac syndrome. Eur Heart J 6 Suppl D:97-102
11. Mathews EC, Blount AW, Townsend JI (1972) Q-T prolongation and ventricular arrhythmias, with and without deafness, in the same family. Am J Cardiol 29:702-711
12. Jervell A, Lange-Nielsen F (1957) Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 54:59
13. Moss AJ, Schwartz PJ, Crampton RS, Tzivoni D, Locati EH, Mac-Cluer J, Hall WJ, Weitkamp L, Vincent GM, Garson A Jr, et al (1991) The long QT syndrome - prospective longitudinal study of 328 families. Circulation 84:1136-1144
14. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 15:186-189
15. Schott JJ, Charpentier F, Peltier S, Foley P. Drouin E, Bouhour JB, Donelly P, Vergnaud G, Bachner L, Moisan JP, 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
16. Schulze-Bahr E, Haverkamp W, Funke H (1995a) The long-QT syndrome. N Engl J Med 333:1783-1784
17. Schulze-Bahr E, Haverkamp W, Wiebusch H, Schulte H, Hördt M, Borggrefe M, Breithardt G, Assmann G, Funke H (1995b) Molecular analysis at the Harvey ras 1-gene (HRAS 1) in patients with long QT syndrome. J Mol Med 73:565-569
18. Schulze-Bahr E, Haverkamp W, Breithardt G, Wiebusch H, Assmann G, Funke H (1996) Molecular ECG repolarization patterns in chromosome 7-linked QT syndrome (LQTS 2). Circulation 94:2318-2319
19. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, the long QT syndrome. Cell 80:805-811
20. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, Raay TJ Van, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Towbin JA, Moss AJ, Atkinson DL, Landes GM, Conners TD, Keating MT (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12:17-23