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

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 o...

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Detalles Bibliográficos
Autores principales: Santos, Mónica, Yan, Jin, Temudo, Teresa, Oliveira, Guiomar, Vieira, José Pedro, Fen, Jinong, Sommer, Steve, Maciel, Patrícia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2008
Materias:
Other
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850630/
https://www.ncbi.nlm.nih.gov/pubmed/18688080
http://dx.doi.org/10.1155/2008/738401
Descripción
Sumario: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.

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