title: 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.
abstract: 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.
authors.affiliation: Life and Health Sciences Research Institute (ICVS), School of Health Sciences School, University of Minho, Braga, Portugal.
authors.forename: Mónica
authors.initials: M
authors.lastname: Santos
authors.forename: Jin
authors.initials: J
authors.lastname: Yan
authors.forename: Teresa
authors.initials: T
authors.lastname: Temudo
authors.forename: Guiomar
authors.initials: G
authors.lastname: Oliveira
authors.forename: José Pedro
authors.initials: JP
authors.lastname: Vieira
authors.forename: Jinong
authors.initials: J
authors.lastname: Fen
authors.forename: Steve
authors.initials: S
authors.lastname: Sommer
authors.forename: Patrícia
authors.initials: P
authors.lastname: Maciel
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012333:RNA, Messenger