A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

Nature Genetics

Volumn 15, Issue 2, 1997, Pages 186-189

  Neyroud, Nathalie ^a,b   Tesson, Frédérique ^a   Denjoy, Isabelle ^b,c   Leibovici, Michel ^d   Donger, Claire ^a   Barhanin, Jacques ^d   Fauré, Sabine ^d   Gary, Françoise ^d   Coumel, Philippe ^b   Petit, Christine ^d   Schwartz, Ketty ^a   Guicheney, Pascale ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c Château des Côtes ^*  (France)

^d CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL;

ADULT; ANIMAL TISSUE; ARTICLE; CHILD; CHROMOSOME 11P; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; FEMALE; GENE MUTATION; HUMAN; IN SITU HYBRIDIZATION; INNER EAR; LONG QT SYNDROME; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; STRIA VASCULARIS;

ADULT; ANIMALS; CHILD, PRESCHOOL; CONSANGUINITY; DEAFNESS; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; EAR, INNER; ENDOLYMPH; FEMALE; HEARING LOSS, BILATERAL; HEART CONDUCTION SYSTEM; HUMANS; IN SITU HYBRIDIZATION; INFANT; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MICE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE DELETION;

EID: 0031054075     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0297-186     Document Type: Article

References (31)

1. Jervell, A. & Lange-Nielsen, F. Congenital deaf mutism, functional heart disease with prolongation of the QT interval and sudden death. Am. Heart J. 54, 59-68 (1956).
2. Fraser, G.R., Froggatt, P. & Murphy, T. Genetical aspects of the cardio-auditory syndrome of Jervell and Lange-Nielsen (congenital deafness and electrocardiographic abnormalities). Ann. Hum. Genet 28, 133-157 (1964).
3. Pernot, C., Henry, M. & Debruille, C. Les syndromes cardio-auditifs d'origine génétique. Coeur Méd. Interne 13, 429-443 (1974).
4. Schwartz, P.J., Periti, M. & Malliani, A. The long Q-T syndrome. Am. Heart J. 89, 378-390 (1975).
5. vLQT1 mutations cause cardiac arrhythmias. Nature Genet. 12, 17-23 (1996).
6. Lander, E. & Bolstein, D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570 (1987).
7. Tesson, F. et al. Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. J. Mol. Cell Cardiol. 28, 2051-2055 (1996).
8. Jiang, C. et al. Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nature Genet 8, 141-147 (1994).
9. Schott, J.J. et al. Mapping of a gene for Long QT syndrome to chromosome 4q25-27. Am. J. Hum. Genet. 57, 1114-1122 (1995).
10. Dausse, E. et al. Readjusting the localization of long QT syndrome gene on chromosome 11p15. C. R. Acad. Sci. Paris 318, 879-885 (1995).
11. Wymore, R.S. et al. Genomic organisation, nucleotide sequence, biophysical properties, and localization of the voltage-gated K+ channel gene KCNA4/Kv1.4 to mouse chromosome 2/human 11p14 and mapping of KCNC1/Kv3.1 to mouse 7/human 11p14.3-15.2 and KCNA1/Kv1.1 to human 12p13. Genomics 20, 191-202 (1994).
12. Sakagami, M. et al. Cellular localization of rat IsK protein in the stria vascularis by immunohistochemical observation. Hearing Res. 56, 168-172 (1991).
13. Mori, N., Sakagami, M., Fukazawa, K. & Matsunaga, T. An immunohistochemical and electrophysiological study on IsK protein in the stria vascularis of the guinea pig. Eur. Arch. Otorhinolaryngol. 250, 186-189 (1993).
14. Wangemann, P., Liu, J. & Marcus, D.C. Ion transport mechanisms responsible for K+ secretion and the transepithelium voltage across marginal cells of stria vascularis in vitro. Hear. Res. 84, 19-29 (1995).
15. Takumi, T., Ohkubo, H. & Nakanishi, S. Cloning of a membrane protein that induces a slow voltage-gated potassium current. Science 242, 1042-1045 (1988).
16. Honoré, E. et al. Cloning, expression, pharmacology and regulation of a delayed-rectifier K+ channel in mouse heart. EMBO J. 10, 2805-2811 (1991).
17. Attali, B. et al. The protein IsK is a dual activator of K+ and Cl-channels. Nature 365, 850-852 (1993).
18. Barhanin, J. et al. KvLQT1 and IsK (minK) proteins associate to form the IKs cardiac potassium current. Nature 384, 78-80 (1996).
19. Sanguinetti, M.C. et al. Coassembly of KvLQT1 and MinK (IsK) proteins to form cardiac IKs potassium change. Nature 384, 80-83 (1996).
20. Sanguinetti, M.C., Jiang, C., Curran, M.E. & Keating, M.T. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the Ikr potassium channel. Cell 81, 299-307 (1995).
21. Bennett, P.B., Yazawa, K., Makita, N. & George, A.L. Molecular mechanism for an inherited cardiac arrhythmia. Nature 376, 683-685 (1995).
22. Fraser, G.R., Froggatt, P. & James, T.N. Congenital deafness associated with electrocardiographs abnormalities, fainting attacks and sudden death. Quart. J. Med. 33, 361-385 (1964).
23. Hudspeth, A.J. How the ear works work. Nature 341, 397-404 (1989).
24. Hoffman, E.P., Lehmann-Horn, F. & Rüdel, R. Overexcited or inactive: ion channels in muscle disease. Cell 80, 681-686 (1995).
25. Byers, P.H., Wallis, G.A. & Willing, M.C. Osteogenesis imperfecta: translation of mutation to phenotype. J. Med. Genet. 28, 433-442 (1991).
26. Hovnanian, A. et al. Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J. Clin. Invest. 90, 1032-1036 (1992).
27. Jeffery, S., Jamieson, R., Patton, M. & Till, J. Long QT and Harvey-ras. Lancet 339, 255 (1992).
28. Pernot, C., Henry, M. & Aigle, J.C. Syndrome cardio-auditif de Jervell et torsades de pointes. Arch. Mal. Coeur 65, 261-274 (1972).
29. Dib, C. et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380, 152-154 (1996).
30. Helbling-Leclerc, A. et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genet 11, 216-218 (1995).
31. Schaeren-Wiemers, N. & Gerfin-Moser, A. A single protocol to detect transcripts of various types and expression levels in neural tisue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes. Histochem. 100, 431-440 (1993).