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Disease Markers
Volume 24, Issue 6, Pages 319-324
http://dx.doi.org/10.1155/2008/738401

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

Mónica Santos,1,2 Jin Yan,3 Teresa Temudo,4 Guiomar Oliveira,5 José Pedro Vieira,6 Jinong Fen,3 Steve Sommer,3 and Patrícia Maciel1

1Life and Health Sciences Research Institute (ICVS), School of Health Sciences School, University of Minho, Braga, Portugal
2ICBAS, University of Porto, Porto, Portugal
3Centre for Molecular Diagnosis, City of Hope Medical Centre, Duarte, CA, USA
4HGSA, Porto, Portugal
5Hospital Pediátrico de Coimbra, Centro Hospitalar de Coimbra, Coimbra, Portugal
6Hospital Fernando Fonseca, Amadora, Portugal

Received 23 July 2008; Accepted 23 July 2008

Copyright © 2008 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.