Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

Nature Genetics

Volumn 20, Issue 2, 1998, Pages 171-174

  Minassian, Berge A ^a,b   Lee Jeffrey, R ^a   Herbrick, Jo Anne ^a   Huizenga, Jack ^a   Soder, Sylvia ^a   Mungall, Andrew J ^c   Dunham, Ian ^c   Gardner, Rebecca ^d   Fong, Chung Yan G ^e   Carpenter, Stirling ^f   Jardim, Laura ^g   Satishchandra, P ^h   Andermann, Eva ⁱ   Carter Snead III, O ^b   Lopes Cendes, Iscia ^i,j   Tsui, Lap Chee ^a,k   Delgado Escueta, Antonio V ^e   Rouleau, Guy A ^i,j   Scherer, Stephen W ^a,k  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY HEALTH NETWORK   (Canada)

^g HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^h NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

ⁱ MCGILL UNIVERSITY   (Canada)

^j MONTREAL GENERAL HOSPITAL   (Canada)

^k UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOTYROSINE;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN BIOPSY; CAUSE OF DEATH; CHROMOSOME 6Q; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC MARKER; HUMAN; MOLECULAR CLONING; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA TRANSCRIPTION; STORAGE DISEASE; SYMPTOMATOLOGY;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CONSENSUS SEQUENCE; EPILEPSIES, MYOCLONIC; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN-TYROSINE-PHOSPHATASE; RNA, MESSENGER;

EID: 17344362307     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/2470     Document Type: Article

References (24)

1. Berkovic, S.F., Andermann, F., Carpenter, S. & Wolfe, L.S. Progressive myoclonus epilepsies: specific causes and diagnosis. New Eng. J. Med. 315, 295-305 (1986).
2. Van Heycop Ten Ham, M.W. Lafora disease, a form of progressive myoclonus epilepsy. Handbook of Clinical Neurology 15, 382-422 (1974).
3. Minassian, B.A., Sainz, J., Bohlega, S., Sakamoto, L.M. & Delgado-Escueta, A.V. Genetic heterogeneity in Lafora's disease. Epilepsia 37, 126 (1996).
4. Lafora, G.R. Uber das vorkommen amyloider korperchen im innern der ganglienzellen; zugleich ein beitrag zum studium der amyloiden substanz im nervensystem. Virchows. Arch. Path. Anat. 205, 295-303 (1911).
5. Harriman, D.G. & Millar, J.H.D. Progressive familial myoclonic epilepsy in 3 families: its clinical features and pathological basis. Brain 78, 325-349 (1955).
6. Schwarz, G.A. & Yanoff, M. Lafora's disease, distinct clinico-pathologic form of Unverricht's syndrome. Arch. Neurol. 12, 172-188 (1965).
7. Sakai, M., Austin, J., Witmer, F. & Trueb, L. Studies in myoclonus epilepsy (Lafora body form). Neurol. 20, 160-176 (1970).
8. Carpenter, S. & Karpati, G. Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurol. 31, 1564-1568 (1981).
9. Carpenter, S., Karpati, G., Andermann, F., Jacob, J.C. & Andermann, E. Lafora's disease: peroxisomal storage in skeletal muscle. Neurol. 24, 531-538 (1974).
10. Serratosa, J. et al. The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. Hum. Molec. Genet. 9, 1657-1663 (1995).
11. Sainz, J. et al. Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. Am. J. Hum. Genet. 61, 1205-1209 (1997).
12. Kozak, M. Interpreting cDNA sequences: some insights from studies on translation. Mamm. Genome 7, 563-574 (1996).
13. Yuvaniyama, J., Denu, J.M., Dixon, J.E. & Saper, M.A. Crystal structure of the dual specificity protein phosphatase VHR. Science 272, 1328-1331 (1996).
14. Denu, J.M., Stuckey, J.A., Saper, M.A. & Dixon, J.E. Form and function in protein dephosphorylation. Cell 87, 361-364 (1996).
15. Laporte, J. et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genet. 13, 175-182 (1996).
16. Cui, X. et al. Association of SET domain and myotubularin-related proteins modulates growth control. Nature Genet. 18, 331-337 (1998).
17. McLaughlin, S. & Dixon, J.E. Alternative splicing gives rise to a nuclear protein tyrosine phosphatase in Drosophila. J. Biol. Chem. 268, 6839-6842 (1993).
18. Tonks, N.K. & Neel, B.G. From form to function: signaling by protein tyrosine phosphatases. Cell 87, 365-368 (1996).
19. Wang, Q.M., Fiol, C.J., DePaoli-Roach, A.A. & Roach, P.J. Glycogen synthase kinase-3β is a dual specificity kinase differentially regulated by tyrosine and serine/threonine phosphorylation. J. Biol. Chem. 20, 14566-14574 (1994).
20. Gurd, J.W. & Bissoon, N. The N-methyl-D-aspartate receptor subunits NR2A and NR2B bind to the SH2 domains of phospholipase C-gamma. J. Neurochem. 69, 623-630 (1997).
21. Llinas, R., Moreno, H., Sugimori, M., Mohammadi, M. & Schlessinger, J. Differential pre- and postsynaptic modulation of chemical transmission in the squid giant synapse by tyrosine phosphorylation. Proc. Natl Acad. Sci. USA 94, 1990-1994 (1997).
22. Lopes-Cendes, I. et al. Searching for the gene causing Lafora body disease. Epilepsia 36, 6 (1995).
23. Acharya, J.N., Satishchandra, P. & Shankar, S.K. Lafora's disease in south India: a clinical, electrophysiologic, and pathologic study. Epilepsia 34, 476-487 (1993).
24. Fong, C.G. et al. Lafora's progressive myoclonus epilepsy: Italian families narrow the chromosome 6q24 locus to less than 1cM. Epilepsia 39, 4-5 (1998).