Identification of MeCP2 mutations in a series of females with autistic disorder

Regina M. Carney, Chantelle M. Wolpert, Sarah A. Ravan, Mona Shahbazian, Allison Ashley-Koch, Michael L. Cuccaro, Jeffery M. Vance, Margaret A. Pericak-Vance

Research output: Contribution to journalArticlepeer-review

172 Scopus citations


Rett disorder and autistic disorder are both pervasive developmental disorders. Recent studies indicate that at least 80% of Rett Disorder cases are caused by mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Since there is some phenotypic overlap between autistic disorder and Rett disorder, we analyzed 69 females clinically diagnosed with autistic disorder for the presence of mutations in the MeCP2 gene. Two autistic disorder females were found to have de novo mutations in the MeCP2 gene. These data provide additional evidence of variable expression in the Rett disorder phenotype and suggest MeCP2 testing may be warranted for females presenting with autistic disorder.

Original languageEnglish (US)
Pages (from-to)205-211
Number of pages7
JournalPediatric Neurology
Issue number3
StatePublished - Mar 2003
Externally publishedYes


  • Autistic Disorder
  • MeCP2 (GenBank accession number AF030876)
  • Pervasive Development Disorders
  • Rett Disorder

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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