title: [An ambiguous pedigree of facioscapulohumeral muscular dystrophy which showed double EcoRI/BlnI resistant short fragments].
abstract: We report a facioscapulohumeral muscular dystrophy (FSHD) pedigree having double short (25 kb and 33 kb) BlnI resistant (4 q-like) fragments. Two of three male siblings developed shoulder-girdle weakness and minimum facial involvement from their adolescence. Although the rest (third) brother had non-progressive hemi-palsy in face and upper-extremity and strabismus caused by birth trauma, he had no clinical symptoms of FSHD. Mother presented mild shoulder weakness after cholecystectomy at the age of 50 years, but with no facial involvement and normal serum creatine kinase (CK) level (45 IU/L). On the contrary, father had high CK level (450 IU/L) despite no neurological abnormalities. After EcoRI/BlnI double digestion, two short fragments were detected in the two affected siblings. Then, all family members were examined to determine pathognomonic fragment. Consequently, mother (25 kb and 90 kb) and the third non-affected brother (25 kb and 51 kb) had two 4 q-like fragments, however, three 4 q-like fragments were detected in father (33 kb, 51 kb and 130 kb), proband (25 kb, 33 kb and 130 kb) and affected brother (25 kb, 33 kb and 51 kb). These findings revealed that the 4 q-like 33 kb fragment actually located on 10q26 through inter-chromosomal exchange. Thus the 25 kb fragment inherited from mother was determined as co-segregating with the disease. To ensure genetic diagnosis for FSHD, investigation of family members is surely required.
authors.affiliation: Department of Neurology, Toneyama National Hospital.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Matsumura
authors.forename: Masaki
authors.initials: M
authors.lastname: Etoh
authors.forename: Kanako
authors.initials: K
authors.lastname: Goto
authors.forename: Toshio
authors.initials: T
authors.lastname: Saito
authors.forename: Sonoko
authors.initials: S
authors.lastname: Nozaki
authors.forename: Harutoshi
authors.initials: H
authors.lastname: Fujimura
authors.forename: Susumu
authors.initials: S
authors.lastname: Shinno
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D015246:Deoxyribonuclease EcoRI / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D015183:Restriction Mapping
chemical_list: D015246:Deoxyribonuclease EcoRI