Human Genetics

, Volume 102, Issue 3, pp 319–321 | Cite as

X chromosome-inactivation patterns in patients with Rett syndrome

  • A. C. Victorino Krepischi
  • Fernando Kok
  • P. Guimarães Otto
Original investigation

Abstract

Rett syndrome (RS) is a complex and severely disabling neurologic disorder, restricted to females. As non-random X inactivation could indicate that the X chromosome has a role in the etiology of the syndrome, we performed molecular analysis based on the differential methylation of the active and inactive X chromosomes with probe M27β, taking into account the parental origin of the two Xs, in 24 RS girls (including a pair of concordant monozygote twins), 22 mothers, and a control group of 30 normal women. The results showed a significantly (Fisher’s exact test) increased frequency of skewed X inactivation in lymphocytes from 15/23 RS compared with 4/22 mothers (P = 0.0031) and 6/30 controls (P = 0.0021). Our results, together with those from the literature, showed that as a group, RS patients are apparently more prone to skewed X inactivation than their mothers and normal controls, and this suggests that the X chromosome is somehow involved in RS etiology.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • A. C. Victorino Krepischi
    • 1
  • Fernando Kok
    • 2
  • P. Guimarães Otto
    • 1
  1. 1.Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, CP: 11.461, CEP: 05422-970, São Paulo SP, Brazil Fax: +55-011-818-7553BR
  2. 2.Departamento de Neurologia, Instituto da Criança do Hospital de Clínicas, Faculdade de Medicina, Universidade de São Paulo, BrazilBR

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