Detalhes bibliográficos
| Resumo: | In this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MECP2 3'UTR of a total of 66 affected females were studied. Five3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the variants found is located in putative protein-binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation. |
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| Autores principais: | Santos, M |
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| Outros Autores: | Yan, J; Temudo, T; Oliveira, G; Vieira, JP; Fen, J; Sommer, S; Maciel, P |
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| Assunto: | 3' Untranslated Regions/genetics Intellectual Disability/genetics Methyl-CpG-Binding Protein 2/genetics Rett Syndrome/genetics Genetic Variation Genotype Methyl-CpG-Binding Methyl-CpG-Binding Protein 2/metabolism Mutation Phenotype Polymerase Chain Reaction Female HDE NEU PED |
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| Ano: | 2008 |
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| País: | Portugal |
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| Tipo de documento: | artigo |
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| Tipo de acesso: | acesso aberto |
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| Instituição associada: | Centro Hospitalar de Lisboa Central, EPE (CHLC) |
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| Idioma: | inglês |
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| Origem: | Repositório do Centro Hospitalar de Lisboa Central, EPE |
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