Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients wit...

• Author(s): Santos, M ; Yan, J ; Temudo, T ; Oliveira, G ; Vieira, J ; Fen, J ; Sommer, S ; Maciel, P
• Date: 2008
• Persistent ID: http://hdl.handle.net/10400.10/402
• Origin: Repositório do Hospital Prof. Doutor Fernando Fonseca
• Subject(s): Genótipo; Reacção em cadeia da polimerase; Variação genética; Perturbações mentais; Sindrome de Rett; Autism; Rett syndrome; Mental retardation
• Document Type: Article
• Language: English

Description

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. Five 3'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.