Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/61623

TitleAnalysis 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
Author(s)Santos, Mónica
Yan, Jin
Temudo, Teresa
Oliveira, Guiomar
Vieira, José Pedro
Fen, Jinong
Sommer, Steve
Maciel, P.
Keywords3' Untranslated Regions
Female
Genetic Variation
Genotype
Humans
Intellectual Disability
Methyl-CpG-Binding Protein 2
Mutation, Missense
Phenotype
Polymerase Chain Reaction
RNA, Messenger
Rett Syndrome
Autism
Neurodevelopment
3'untranslated region
Issue date2008
PublisherIOS Press
JournalDisease Markers
CitationSantos, M., Yan, J., Temudo, T., et. al. (2008). 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. Disease markers, 24(6), 319-324.
Abstract(s)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.
TypeArticle
URIhttp://hdl.handle.net/1822/61623
DOI10.1155/2008/738401
ISSN0278-0240
Publisher versionhttps://www.hindawi.com/journals/dm/2008/738401/abs/
Peer-Reviewedyes
AccessRestricted access (UMinho)
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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