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Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers
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Knudsen, Gun Peggy S., Neilson, Tracey C. S., Pedersen, June, Kerr, Alison, Schwartz, Marianne, Hultén, Maj A., Bailey, Mark E. S. and Orstavik, Karen Helene (2006) Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. EUROPEAN JOURNAL OF HUMAN GENETICS, 14 (11). pp. 1189-1194. doi:10.1038/sj.ejhg.5201682 ISSN 1018-4813.
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Official URL: http://dx.doi.org/10.1038/sj.ejhg.5201682
Abstract
Rett syndrome is a largely sporadic, X-linked neurological disorder with a characteristic phenotype, but which exhibits substantial phenotypic variability. This variability has been partly attributed to an effect of X chromosome inactivation (XCI). There have been conflicting reports regarding incidence of skewed X inactivation in Rett syndrome. In rare familial cases of Rett syndrome, favourably skewed X inactivation has been found in phenotypically normal carrier mothers. We have investigated the X inactivation pattern in DNA from blood and buccal cells of sporadic Rett patients (n = 96) and their mothers (n = 84). The mean degree of skewing in blood was higher in patients (70.7%) than controls (64.9%). Unexpectedly, the mothers of these patients also had a higher mean degree of skewing in blood (70.8%) than controls. In accordance with these findings, the frequency of skewed (XCI >= 80%) X inactivation in blood was also higher in both patients (25%) and mothers (30%) than in controls (11%). To test whether the Rett patients with skewed X inactivation were daughters of skewed mothers, 49 mother - daughter pairs were analysed. Of 14 patients with skewed X inactivation, only three had a mother with skewed X inactivation. Among patients, mildly affected cases were shown to be more skewed than more severely affected cases, and there was a trend towards preferential inactivation of the paternally inherited X chromosome in skewed cases. These findings, particularly the greater degree of X inactivation skewing in Rett syndrome patients, are of potential significance in the analysis of genotype - phenotype correlations in Rett syndrome.
Item Type: | Journal Article | ||||
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Subjects: | Q Science > QD Chemistry Q Science > QH Natural history > QH426 Genetics |
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Journal or Publication Title: | EUROPEAN JOURNAL OF HUMAN GENETICS | ||||
Publisher: | NATURE PUBLISHING GROUP | ||||
ISSN: | 1018-4813 | ||||
Official Date: | November 2006 | ||||
Dates: |
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Volume: | 14 | ||||
Number: | 11 | ||||
Number of Pages: | 6 | ||||
Page Range: | pp. 1189-1194 | ||||
DOI: | 10.1038/sj.ejhg.5201682 | ||||
Publication Status: | Published |
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