title: The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.
abstract: We investigated 52 families of patients with facioscapulohumeral muscular dystrophy (FSHD1), including 172 patients (104 males and 68 females). Among 273 DNA samples which were analyzed with probe p13E-11, 131 (67 males and 64 females) were shown to carry an EcoRI fragment smaller than 35 kb; 114 among them were examined clinically and neurologically. Results of the present investigation showed that: a) there is no molecular evidence for autosomal or X-linked recessive inheritance of FSHD1; b) an excess of affected males, which is explained by a significantly greater proportion of females than males among asymptomatic cases and a significantly greater proportion of affected sons than daughters observed in the offspring of asymptomatic mothers; c) the penetrance of the FSHD1 gene until age 30 was estimated as 83% for both sexes but was significantly greater for males (95%) than for females (69%); d) new mutations occur significantly more frequently in females than males among somatic/germinal mosaic cases; and e) severely affected cases originated more often through new mutations or were transmitted through maternal than through paternal lines including somatic/germinal mothers. These observations have important implications for understanding the molecular mechanisms responsible for FSHD1 and for genetic and prognostic counseling according to the gender of the affected patient.
authors.affiliation: Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Zatz
authors.forename: S K
authors.initials: SK
authors.lastname: Marie
authors.forename: A
authors.initials: A
authors.lastname: Cerqueira
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: R C
authors.initials: RC
authors.lastname: Pavanello
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D015246:Deoxyribonuclease EcoRI; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D008840:Microfilament Proteins; D008875:Middle Aged; D009030:Mosaicism / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D017384:Sequence Deletion; D012737:Sex Factors
chemical_list: C101270:FRG1 protein, human; D008840:Microfilament Proteins; D009687:Nuclear Proteins; D011506:Proteins; D016601:RNA-Binding Proteins; D015246:Deoxyribonuclease EcoRI