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Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
Journal article   Peer reviewed

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

Len A Pennacchio, Anna-Elina Lehesjoki, Nancy E Stone, Virginia L Willour, Kimmo Virtaneva, Jinmin Miao, Elena D'Amato, Lucïa Ramirez, Malek Faham, Marjaleena Koskiniemi, …
Science (American Association for the Advancement of Science), Vol.271(5256), pp.1731-1734
03/22/1996
DOI: 10.1126/science.271.5256.1731
PMID: 8596935

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Abstract

Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The gene encoding cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this gene were found to be decreased in cells from affected individuals. Two mutations, a 3' splice site mutation and a stop codon mutation, were identified in the gene encoding cystatin B in EPM1 patients but were not present in unaffected individuals. These results provide evidence that mutations in the gene encoding cystatin B are responsible for the primary defect in patients with EPM1.
 Finland Gene Expression Polymerase Chain Reaction Codon, Terminator - genetics Humans Molecular Sequence Data Male RNA, Messenger - metabolism Cysteine Proteinase Inhibitors - genetics Cystatin B Recombination, Genetic Base Sequence Cysteine Proteinase Inhibitors - chemistry Female Epilepsies, Myoclonic - genetics Amino Acid Sequence Introns - genetics RNA, Messenger - genetics Chromosome Mapping Chromosomes, Human, Pair 21 - genetics Genes, Recessive Linkage Disequilibrium Point Mutation Cystatins - genetics Pedigree Cystatins - chemistry

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