This Article Full Text (PDF) All Versions of this Article: 0883073808327834v1 24/6/772    most recent References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Scopus Google Scholar Articles by Parmeggiani, A. Articles by Sangiorgi, S. PubMed PubMed Citation Articles by Parmeggiani, A. Articles by Sangiorgi, S. Social Bookmarking                         What's this?

Methyl-CpG-binding Protein 2 (MECP2) Gene Mutations in an Italian Sample of Patients with Pervasive Developmental Disorder and Mental Retardation

Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy, antonia.parmeggiani{at}unibo.it

Maria Rita Tedde, MD

Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy

Annalisa Arbizzani, MD

Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy

Annio Posar, MD

Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy

Maria Cristina Scaduto, MD

Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy

Margherita Santucci, MD

Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy

Simonetta Sangiorgi, Biol Sci

Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy

Methyl-CpG-binding protein 2 (MECP2) gene mutations have been identified in girls with Rett syndrome and in boys with heterogeneous neuropsychiatric disorders. Because of the limited or inconsistent data reported in literature, the role of methyl-CpG-binding protein 2 gene in the pathogenesis of mental retardation and pervasive developmental disorders needs further study. We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation. Four methyl-CpG-binding protein 2 gene mutations were found: 2 in 4 girls with Rett disorder, the others in 2 girls with mental retardation. The wide phenotypic spectrum and the variants of methyl-CpG-binding protein 2 gene, which may play an important role in gene regulation and neurodevelopment, justify the literature's interest particularly in girls.

Key Words: MECP2 mutations • Rett disorder • pervasive developmental disorders • autism • mental retardation

This version was published on June 1, 2009

Journal of Child Neurology, Vol. 24, No. 6, 772-774 (2009)
DOI: 10.1177/0883073808327834


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?