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.

journal_name

Dis Markers

journal_title

Disease markers

authors

Santos M,Yan J,Temudo T,Oliveira G,Vieira JP,Fen J,Sommer S,Maciel P

doi

10.1155/2008/738401

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

319-24

issue

6

eissn

0278-0240

issn

1875-8630

journal_volume

24

pub_type

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