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.
journal_name
Dis Markersjournal_title
Disease markersauthors
Santos M,Yan J,Temudo T,Oliveira G,Vieira JP,Fen J,Sommer S,Maciel Pdoi
10.1155/2008/738401subject
Has Abstractpub_date
2008-01-01 00:00:00pages
319-24issue
6eissn
0278-0240issn
1875-8630journal_volume
24pub_type
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