Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation

Dis Markers. 2008;24(6):319-24. doi: 10.1155/2008/738401.

Abstract

In this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MECP2 3'UTR of a total of 66 affected females were studied. Five 3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the variants found is located in putative protein-binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics*
  • Female
  • Genetic Variation
  • Genotype
  • Humans
  • Intellectual Disability / genetics*
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Methyl-CpG-Binding Protein 2 / metabolism
  • Mutation, Missense
  • Phenotype
  • Polymerase Chain Reaction
  • RNA, Messenger
  • Rett Syndrome / genetics*

Substances

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