title: Detection of the mutation in facioscapulohumeral muscular dystrophy patients.
abstract: The gene responsible for facioscapulohumeral muscular dystrophy (FSHD) was mapped to chromosome 4q35 by linkage analyses. Recently, the probe p13E-11 derived from the cosmid clone 13E, which has been mapped to 4qter, detected a polymorphic EcoRI fragment, usually greater than 28 kb in normal individuals. In sporadic and familial FSHD patients, a specific shorter fragment, usually smaller than 28 kb, was found to cosegregate with FSHD. Two FSHD patients are presented here. Patient 1 is a sporadic case of FSHD with healthy parents. He had a de novo mutation identified by Southern blot analysis using the above-mentioned probe. Patient 2 is a typical familial FSHD patient clinically and histologically. A rearranged and shortened EcoRI fragment was identified by molecular analysis. Southern blot analysis using the probe p13E-11 also indicated a rearranged EcoRI fragment in both patients.
authors.affiliation: Department of Pediatrics, Sapporo Medical University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Ohya
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: N
authors.initials: N
authors.lastname: Kozuka
authors.forename: S
authors.initials: S
authors.lastname: Kon
authors.forename: K
authors.initials: K
authors.lastname: Kikuchi
authors.forename: S
authors.initials: S
authors.lastname: Chiba
mesh_terms: D000483:Alleles; D015139:Blotting, Southern; D002648:Child; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D015342:DNA Probes; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree
chemical_list: D015342:DNA Probes