Rett syndrome in Spain: mutation analysis and clinical correlations
| Autor: | Elena Aibar, Eugenia Monros, Pilar Poo, Ignacio Canós, Mercè Pineda, Judith Armstrong |
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| Rok vydání: | 2001 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Adolescent Genotype Chromosomal Proteins Non-Histone Methyl-CpG-Binding Protein 2 DNA Mutational Analysis Mutation Missense Stereotypic Movement Disorder Rett syndrome Disease Biology medicine.disease_cause Bioinformatics Speech Disorders MECP2 Sex Factors Degenerative disease Developmental Neuroscience Rett Syndrome medicine Humans Missense mutation Child Gait Disorders Neurologic Genetics Mutation Infant Newborn Infant General Medicine medicine.disease Protein Structure Tertiary DNA-Binding Proteins Repressor Proteins Phenotype Spain Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) Age of onset |
| Zdroj: | BRAIN & DEVELOPMENT r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| ISSN: | 0387-7604 |
| Popis: | Rett syndrome (RTT) is an X-linked neurodevelopmental disease that affects girls almost exclusively. In a high proportion of patients the disease is caused by de novo mutations at the MECP2 gene, encoding methyl-CpG-binding protein 2. With the aim to characterize the spectrum of mutations in a series of sporadic RTT patients, including an affected male, and to relate the genetic results to the clinical features of the disease, a clinical checklist and a score system were elaborated to evaluate the clinical severity of the disease. Mutation analysis of the MECP2 coding region was done by direct sequencing. De novo mutations were found in 60% of the patients, including both classic and atypical forms. The change R133H was identified in a 13-year-old boy showing a classic RTT phenotype and normal karyotype. Significant differences were observed among missense and truncating mutations regarding disease severity, age of onset of stereotypies, and the ability of the patients to sit alone and to walk. |
| Databáze: | OpenAIRE |
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