Sequence variants within exon 1 of MECP2 occur in females with mental retardation

Chris G. Harvey, Sailesh D. Menon, Beata Stachowiak, Abdul Noor, Adam Proctor, Albert K. Mensah, Gevork N. Mnatzakanian, Simon E. Alfred, Ray Guo, Stephen W. Scherer, James L. Kennedy, Wendy Roberts, Anand K. Srivistava, Berge A. Minassian, John B. Vincent

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


A new splice variant of the Rett syndrome gene, MECP2, was recently identified, that includes coding sequence from eson 1, and is the predominant transcript in the central nervous system. This sequence encodes polyalanine and polyglycine stretches within the N-terminal portion of MeCP2, and may confer novel functional properties to the protein. We screened autism, mental retardation (MR), and control populations for sequence variation within this region, and identified variation in ∼1% of MR cases screened (N = 1,410). No variants were identified in the autism sample (N = 401). Most of these variants occur within a trinucleotide repeat region and result in change in number of alanine or glycine residues within the repeat stretches. We suggest some of these variants may be a relatively frequent cause of non-specific MR or developmental delay.

Original languageEnglish (US)
Pages (from-to)355-360
Number of pages6
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number3
StatePublished - Apr 5 2007


  • Autism
  • Exon 1
  • MECP2
  • Mental retardation
  • Polyalanine

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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