title: Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome.
abstract: The locus DXS255 was studied using the probe M27 beta in ten probands with Rett syndrome and in eight of their families. No evidence of uniparental disomy of the X chromosome was detected, as all informative probands had inherited an allele from each of their parents. Differential methylation of a CCGG site within the DXS255 locus as shown by digestion with MspI/HpaII, revealed moderate skewing of X-inactivation favouring the maternal allele in two of the probands. Random X-inactivation was present in all mothers tested and in two unaffected sisters. Three of four unaffected siblings had inherited the same maternal allele at DXS255.
authors.affiliation: Department of Clinical Genetics, Birmingham Maternity Hospital, UK.
authors.forename: T
authors.initials: T
authors.lastname: Webb
authors.forename: E
authors.initials: E
authors.lastname: Watkiss
authors.forename: C G
authors.initials: CG
authors.lastname: Woods
mesh_terms: D000483:Alleles; D004303:Dosage Compensation, Genetic; D005220:Fathers; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009035:Mothers; D012150:Polymorphism, Restriction Fragment Length; D015518:Rett Syndrome / Q000235:genetics*; D014960:X Chromosome