title: Allelic heterogeneity of Mediterranean myoclonus and the cystatin B gene.
abstract: Mediterranean myoclonus is a progressive myoclonus epilepsy with autosomal recessive inheritance. Another form has been described in Finland, the so-called Baltic myoclonus. Mediterranean myoclonus and Baltic myoclonus are also known as Unverricht-Lundborg disease. Linkage analyses have shown that the genes for both these forms of myoclonus are closely linked to 21q22.3 DNA markers, suggesting that they are caused by mutations at the same locus (EPM1). Recently, two heterozygous mutations were found in the cystatin B gene in patients with Unverricht-Lundborg disease. We report recombinational and linkage disequilibrium mapping of EPM1, and cystatin B gene sequencing, in 14 consanguineous pedigrees with Mediterranean myoclonus. Linkage to 21q22.3 DNA markers was observed in all these families. Haplotype analysis suggests that a common mutation segregates within these pedigrees, and that this mutation is different from the common one responsible for the Finnish form of Unverricht-Lundborg disease. No mutation was found in the exons or splice junctions of the cystatin B gene in the 14 pedigrees.
authors.affiliation: Service de Neurologie, CHU Caremeau, Nîmes, France.
authors.forename: P
authors.initials: P
authors.lastname: Labauge
authors.forename: R
authors.initials: R
authors.lastname: Ouazzani
authors.forename: A
authors.initials: A
authors.lastname: M'Rabet
authors.forename: D
authors.initials: D
authors.lastname: Grid
authors.forename: P
authors.initials: P
authors.lastname: Genton
authors.forename: C
authors.initials: C
authors.lastname: Dravet
authors.forename: T
authors.initials: T
authors.lastname: Chkili
authors.forename: C
authors.initials: C
authors.lastname: Beck
authors.forename: C
authors.initials: C
authors.lastname: Buresi
authors.forename: M
authors.initials: M
authors.lastname: Baldy-Moulinier
authors.forename: A
authors.initials: A
authors.lastname: Malafosse
mesh_terms: D001483:Base Sequence; D016009:Chi-Square Distribution; D002874:Chromosome Mapping; D003241:Consanguinity; D055313:Cystatin B; D015891:Cystatins / Q000235:genetics*; D015853:Cysteine Proteinase Inhibitors / Q000235:genetics*; D004247:DNA / Q000032:analysis; D004831:Epilepsies, Myoclonic / Q000208:ethnology / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008126:Lod Score; D019083:Mediterranean Region / Q000453:epidemiology; D010375:Pedigree; D011153:Population
chemical_list: C524994:CSTB protein, human; D015891:Cystatins; D015853:Cysteine Proteinase Inhibitors; D005819:Genetic Markers; D055313:Cystatin B; D004247:DNA