Two novel mutations in the <Emphasis Type="Italic">EPM2A </Emphasis>gene in a Korean patient with Lafora's progressive myoclonus epilepsy |
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Authors: | C-S Ki S-Y Kong D W Seo S B Hong H-J Kim J-W Kim |
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Institution: | (1) Department of Clinical Pathology, Sungkyunkwan University School of Medicine, Samsung Medical Center, 50 Ilwon-Dong, Kangnam-Gu, Seoul 135-710, Korea. culture@med.skku.ac.kr, KR;(2) Department of Neurology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea, KR |
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Abstract: | The progressive myoclonus epilepsy of the Lafora type (LD; MIM 254780) is a rare autosomal recessive disorder characterized
by epilepsy, myoclonus, progressive neurological deterioration, and the presence of periodic acid-Schiff-positive polyglucosan
inclusions (Lafora bodies). Mutations in the EPM2A gene have recently been found to cause LD and about 30 or more mutations have been reported thus far. LD is relatively common
in countries of the Mediterranean Basin, the Middle East, India, and Pakistan. Although a few sporadic cases with the typical
LD phenotype have also been reported in the Far East including Korea and Japan, a recent effort to find mutations in Japanese
LD families was not successful. In the present study, we report two novel mutations in a Korean girl with LD; a 1-bp insertion
mutation (c.223insC; G75fsX107) in exon 1 and a missense mutation (c.559A>G; T187A) in exon 3 of the EPM2A gene. To our knowledge, this is the first report of a genetically confirmed case of LD in Koreans and also in the Far East.
Received: September 2, 2002 / Accepted: November 8, 2002
Acknowledgments This work was supported by the fund from the Center for Functional Analysis of Human Genome (FG-2–1-02), Korea.
The third and sixth authors contributed equally to this work.
Correspondence to:J.-W. Kim |
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Keywords: | Progressive myoclonus epilepsy (PME) Lafora disease Lafora body EPM2A Mutation analysis Insertion mutation Missense mutation Korean |
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