Rett syndrome: clinical and molecular characterization of two Brazilian patients

Arq Neuropsiquiatr. 2007 Mar;65(1):36-40. doi: 10.1590/s0004-282x2007000100009.

Abstract

Background: Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported. There is a lack of phenotype-genotype studies.

Objective: To describe two cases of Brazilian patients with identified MECP2 mutations.

Method: We present two female Brazilian patients with RS.

Results: Both patients presented with regression at 2-3 years of age, when stereotypic hand movements, social withdrawal and postnatal deceleration of head growth rate were observed. Both patients presented verbal communication impairment. Case 1 had loss of purposeful hand movements, and severe seizure episodes. Case 2 had milder impairment of purposeful hand movements, and no seizures. They had different mutations, D97Y and R294X, found in exons 3 and 4 of MECP2 gene, respectively.

Conclusion: Testing for MECP2 mutations is important to confirm diagnosis and to establish genotype/phenotype correlations, and improve genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation*
  • Phenotype*
  • Rett Syndrome / diagnosis
  • Rett Syndrome / genetics*

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2