Genotype-phenotype correlation in Brazillian Rett syndrome patients

Arq Neuropsiquiatr. 2009 Sep;67(3A):577-84. doi: 10.1590/s0004-282x2009000400001.


Background: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene.

Purpose: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype.

Method: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene.

Results: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed.

Conclusion: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.

MeSH terms

  • Adolescent
  • Adult
  • Brazil
  • Child
  • Child, Preschool
  • DNA / analysis*
  • Female
  • Genetic Association Studies*
  • Humans
  • Infant
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Rett Syndrome / genetics*
  • Young Adult


  • Methyl-CpG-Binding Protein 2
  • DNA