1999-02-04
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
Publication
Publication
Human Molecular Genetics , Volume 8 - Issue 2 p. 345- 352
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 in homozygosis 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.
| Additional Metadata | |
|---|---|
| doi.org/10.1093/hmg/8.2.345, hdl.handle.net/1765/58204 | |
| Human Molecular Genetics | |
| Organisation | Department of Clinical Genetics |
|
Serratosa, J., Gómez-Garre, P., Gallardo, M. E., Anta, B., Beltrán-Valero De Bernabé, D., Lindhout, D., … Rodríguez De Córdoba, S. (1999). A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Human Molecular Genetics, 8(2), 345–352. doi:10.1093/hmg/8.2.345 |
|