title: X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe.
abstract: Rett syndrome (RS) is a neurologic disorder with an exclusive incidence in females. A nonrandom X-inactivation could provide insight into the understanding of this disease. We performed molecular analysis based on the differential methylation of the active and inactive X with probe M27 beta, taking into account the parental origin of the two Xs, in 30 control girls, 8 sisters, and 30 RS girls. In 27 control an 31 RS mothers, the inactivation status of the X transmitted to their daughters was also analyzed. The results showed a significantly increased frequency of partial paternal X inactivation (> 65%) in lymphocytes from 16/30 RS compared with 4/30 controls (P = 0.001). These results do not support the hypothesis of a monogenic X-linked mutation but should be taken into account when researching the etiology of this disease.
authors.affiliation: Laboratoire de Génétique, C.H.U. de Brabois, Vandoeuvre-Lès-Nancy, France.
authors.forename: P
authors.initials: P
authors.lastname: Camus
authors.forename: N
authors.initials: N
authors.lastname: Abbadi
authors.forename: M C
authors.initials: MC
authors.lastname: Perrier
authors.forename: M
authors.initials: M
authors.lastname: Chéry
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
mesh_terms: D004247:DNA / Q000378:metabolism; D015342:DNA Probes; D019003:Deoxyribonuclease HpaII; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D008745:Methylation; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004247:DNA; D019003:Deoxyribonuclease HpaII