Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation
| Autor: | Maria Cristina Scaduto, Simonetta Sangiorgi, Annalisa Arbizzani, Maria Rita Tedde, Annio Posar, Margherita Santucci, Antonia Parmeggiani |
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| Přispěvatelé: | A. Parmeggiani, M.R.Tedde, A. Arbizzani, A. Posar, M.C. Scaduto, M. Santucci, S. Sangiorgi |
| Rok vydání: | 2009 |
| Předmět: |
Male
Adolescent Methyl-CpG-Binding Protein 2 Autism DNA Mutational Analysis Mental Retardation Rett syndrome Epigenetics of autism Pervasive Developmental Disorder Gene mutation Biology MECP2 Intellectual Disability Pervasive developmental disorder medicine Rett Syndrome Humans Child Gene Regulation of gene expression Genetics MECP2 Mutation medicine.disease Phenotype Italy Rett Disorder Child Development Disorders Pervasive Pediatrics Perinatology and Child Health Mutation Female Neurology (clinical) |
| Zdroj: | Journal of child neurology. 24(6) |
| ISSN: | 1708-8283 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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