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• W2112193800 abstract "Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. Eighty five percent of patients with AS have an identifiable genetic abnormality of chromosome 15q11-13. Mutations within the X linked<i>MECP2</i> gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with AS. RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation. A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for <i>MECP2</i> mutations and these were identified in four females and one male. Following the diagnosis, it was possible to elicit a history of regression in three of these patients, who by then were showing features suggestive of Rett syndrome. In the remaining two subjects the clinical phenotype was still considered to be Angelman-like. These findings illustrate the phenotypic overlap between the two conditions and suggest that screening for<i>MECP2</i> mutations should be considered in AS patients without a demonstrable molecular or cytogenetic abnormality of 15q11-13. Since <i>MECP2</i> mutations almost always occur de novo, their identification will substantially affect genetic counselling for the families concerned." @default.
• W2112193800 created "2016-06-24" @default.
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• W2112193800 date "2001-04-01" @default.
• W2112193800 modified "2023-09-25" @default.
• W2112193800 title "Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein" @default.
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• W2112193800 doi "https://doi.org/10.1136/jmg.38.4.224" @default.
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