Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients

J Child Neurol. 2012 May;27(5):564-8. doi: 10.1177/0883073811420496. Epub 2011 Sep 22.

Abstract

Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett patients present an apparently normal psychomotor development during the first 6 to 18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. In the present study, we performed a mutational analysis of the MECP2 gene in 2 typical Rett syndrome patients and in 1 atypical Rett syndrome girl. The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Computational Biology
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation / genetics*
  • Rett Syndrome / genetics*
  • Tunisia

Substances

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