title: Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation.
abstract: 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.
authors.affiliation: Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy. antonia.parmeggiani@unibo.it
authors.forename: Antonia
authors.initials: A
authors.lastname: Parmeggiani
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Tedde
authors.forename: Annalisa
authors.initials: A
authors.lastname: Arbizzani
authors.forename: Annio
authors.initials: A
authors.lastname: Posar
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Scaduto
authors.forename: Margherita
authors.initials: M
authors.lastname: Santucci
authors.forename: Simonetta
authors.initials: S
authors.lastname: Sangiorgi
mesh_terms: D000293:Adolescent; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007558:Italy; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2