Publication Date:
1996-03-22
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Pennacchio, L A -- Lehesjoki, A E -- Stone, N E -- Willour, V L -- Virtaneva, K -- Miao, J -- D'Amato, E -- Ramirez, L -- Faham, M -- Koskiniemi, M -- Warrington, J A -- Norio, R -- de la Chapelle, A -- Cox, D R -- Myers, R M -- HD-24610/HD/NICHD NIH HHS/ -- IF32GM17502/GM/NIGMS NIH HHS/ -- P50 HG-00206/HG/NHGRI NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1996 Mar 22;271(5256):1731-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Stanford University School of Medicine, Standford, CA 94305, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8596935" target="_blank"〉PubMed〈/a〉
Keywords:
Amino Acid Sequence
;
Base Sequence
;
Chromosome Mapping
;
Chromosomes, Human, Pair 21/*genetics
;
Codon, Terminator/genetics
;
Cystatin B
;
Cystatins/chemistry/*genetics
;
Cysteine Proteinase Inhibitors/chemistry/*genetics
;
Epilepsies, Myoclonic/*genetics
;
Female
;
Finland
;
Gene Expression
;
Genes, Recessive
;
Humans
;
Introns/genetics
;
Linkage Disequilibrium
;
Male
;
Molecular Sequence Data
;
Pedigree
;
Point Mutation
;
Polymerase Chain Reaction
;
RNA, Messenger/genetics/metabolism
;
Recombination, Genetic
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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