Analysis of Highly Conserved Regions of the 3'UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation

• Autor(a) principal: Santos, M
• Data de Publicação: 2008
• Outros Autores: Yan, J, Temudo, T, Oliveira, G, Vieira, JP, Fen, J, Sommer, S, Maciel, P
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.17/2337
• topic: 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

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.