X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe

Hum Genet. 1996 Feb;97(2):247-50. doi: 10.1007/BF02265275.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / metabolism
  • DNA Probes
  • Deoxyribonuclease HpaII
  • Dosage Compensation, Genetic*
  • Female
  • Humans
  • Methylation
  • Rett Syndrome / genetics*

Substances

  • DNA Probes
  • DNA
  • Deoxyribonuclease HpaII