Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation

J Child Neurol. 2010 Aug;25(8):1042-6. doi: 10.1177/0883073809356353.

Abstract

Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical polyadenylation site in the 3(')UTR of the MECP2 gene. We also detected in another patient a new variant c.1461+92C>G in the 3(')UTR located previous to 34 bp from the polyadenylation site with a score of 4.085. This variation is located in a hypothetical splicing enhancer with a score of 1.96277 according to the ESE finder program. In the remaining 5 patients, we found 2 common mutations: p.T158M in 4 individuals and p.R168X in only 1 girl.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics
  • Base Sequence
  • Child
  • Computational Biology / methods
  • DNA Mutational Analysis / methods
  • Exons / genetics
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Polyadenylation / genetics
  • RNA Splice Sites / genetics
  • Rett Syndrome / ethnology
  • Rett Syndrome / genetics*
  • Rett Syndrome / metabolism
  • Sequence Homology, Nucleic Acid
  • Tunisia

Substances

  • 3' Untranslated Regions
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • RNA Splice Sites