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- Title
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
- Authors
Serratosa, José M.; Gómez-Garre, Pilar; Gallardo, Ma Esther; Anta, Berta; Beltrán-Valero de Bernabé, Daniel; Lindhout, Dick; Augustijn, Paul B.; Tassinari, Carlo A.; Malafosse, Roberto Michelucci6, Alain; Topcu, Meral; Grid, Djamel; Dravet, Charlotte; Berkovic, Samuel F.; Rodríguez de Córdoba, Santiago
- Abstract
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for EPM2 previously has been mapped to chromosome 6q23-q25 using linkage analysis and homozygosity mapping. Here we report the positional cloning of the 6q EPM2 gene. A microdeletion within the EPM2 critical region, present inhomozygosis in an affected individual, was found to disrupt a novel gene encoding a putative protein tyrosine phosphatase (PTPase). The gene, denoted EPM2, presents alternative splicing in the 5′ and 3′ end regions. Mutational analysis revealed that EPM2 patients are homozygous for loss-of-function mutations in EPM2. These findings suggest that Lafora disease results from the mutational inactivation of a PTPase activity that may be important in the control of glycogen metabolism.
- Subjects
MYOCLONUS genetics; LINKAGE (Genetics); HUMAN gene mapping; HUMAN chromosome abnormalities
- Publication
Human Molecular Genetics, 1999, Vol 8, Issue 2, p345
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/8.2.345