[Facioscapuloperoneal muscular dystrophy: correlation between a phenotype and genotype].
Thirty four symptomatic and 17 presymptomatic (PS) patients from 21 autosomal dominant facioscapuloperoneal muscular dystrophy (FSPMD) families were found by the probe p13E-11 and enzymes EcoRI/BlnI to have DNA fragments size (DFS) between 13-35 kb (double digestion) and in other 8 PS patients - 37-39 kb, in one PS woman - 45 kb caused by deletion related to the disease and linked with chromosome 4q35. In all the families which had the same or different DFS ranging between 13-35 kb we observed similar clinical variability of phenotypes (the static muscle pattern), the severity of the disease (SD) and daily-life work disability (LD) in the families and between the families. We found no significant correlation between DFS and the phenotype, DFS and the age at onset of the disease, DFS and SD, DFS and LD. Thus, it is confirmed that the probe p13E-11 can be used for detecting DFS between 13-35 kb (or 37 kb) (double digestion) for FSPMD which are assigned with chromosome 4q35. However, in patients with typical FSHD the 4q35-linked EcoRI fragment detected by p13E-11 is usually shorter than 38 kb. Therefore, we believe that the detected DFS cannot be the criterion for establishing genetic heterogeneity of FSHD. It is possible that FSPD and FSHD are allelic diseases.
Rudenko
D I
DI
Kazakov
B M
BM
Skoromets
A A
AA
Magomedova
N K
NK
D000483:Alleles; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics*; D010641:Phenotype