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Neither uniparental disomy nor skewed X‐inactivation explains Rett syndrome
Author(s) -
Webb T.,
Watkiss E.,
Woods C. G.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03889.x
Subject(s) - uniparental disomy , allele , genetics , proband , locus (genetics) , hpaii , biology , rett syndrome , genomic imprinting , chromosome , karyotype , gene , mutation , dna methylation , gene expression
Webb T, Watkiss E, Woods CG. Neither uniparental disomy nor skewed X‐inactivation explains Rett syndrome. Clin Genet 1993: 44: 236–240. © Munksgaard, 1993 The locus DXS255 was studied using the probe M27β 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 Mspl/Hpall, 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.