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Human Molecular Genetics, Vol 8, 345-352, Copyright © 1999 by Oxford University Press

ARTICLES

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

JM Serratosa, P Gomez-Garre, ME Gallardo, B Anta, DB de Bernabe, D Lindhout, PB Augustijn, CA Tassinari, RM Malafosse, M Topcu, D Grid, C Dravet, SF Berkovic and SR de Cordoba
Laboratorio y Servicio de Neurologia and Unidad de Patologia Molecular, Fundacion Jimenez Diaz,Avenida Reyes Catolicos 2, 28040 Madrid, Spain. serratosa@jet.es

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.
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