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Publication:

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism (2002)

Author(s): International Molecular Genetic Study of Autism Consortium (IMGSAC); Poustka A; Beyer KS; Blasi F; Bacchelli E; Klauck SM; Maestrini E

    Abstract: Mutations in the coding region of the methyl-CpG-binding protein 2 (MECP2) gene cause Rett syndrome and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, such mutations have recently been described in a few autistic patients. In this study, a large sample of individuals with autism was screened in order to elucidate systematically whether specific mutations in MECP2 play a role in autism. The mutation analysis of the coding sequence of the gene was performed by denaturing high-pressure liquid chromatography and direct sequencing. Taken together, 14 sequence variants were identified in 152 autistic patients from 134 German families and 50 unrelated patients from the International Molecular Genetic Study of Autism Consortium affected relative-pair sample. Eleven of these variants were excluded for having an aetiological role as they were either silent mutations, did not cosegregate with autism in the pedigrees of the patients or represented known polymorphisms. The relevance of the three remaining mutations towards the aetiology of autism could not be ruled out, although they were not localised within functional domains of MeCP2 and may be rare polymorphisms. Taking into account the large size of our sample, we conclude that mutations in the coding region of MECP2 do not play a major role in autism susceptibility. Therefore, infantile autism and Rett syndrome probably represent two distinct entities at the molecular genetic level.

      • Date: 19-02-2004
      • Journal: Human Genetics
      • Volume: 111
      • Issue: 4-5
      • Pages: 305-309
      • Publisher: Springer
      • Publication type: Article
      • Bibliographic status: Published
      Staff

      Professor Ann Le Couteur
      Professor of Child & Adolescent Psychiatry

      Dr Jeremy Parr
      Clinical Senior Lecturer/Hon Consultant