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
Affiliations: Life and Health Sciences Research Institute (ICVS),
School of Health Sciences School, University of Minho, Braga, Portugal | ICBAS, University of Porto, Porto, Portugal | Centre for Molecular Diagnosis, City of Hope Medical
Centre, Duarte, CA, USA | HGSA, Porto, Portugal | Hospital Pediátrico de Coimbra, Centro Hospitalar
de Coimbra, Coimbra, Portugal | Hospital Fernando Fonseca, Amadora, Portugal
Note: [] Corresponding author: Patrícia Maciel, Ph.D., Life and
Health Sciences Research Institute (ICVS)/ School of Health Sciences,
Universidade do Minho, Campus de Gualtar, 4710-057 Braga, Portugal. Tel.: +351
253604824; Fax: +351 253604809; E-mail: pmaciel@ecsaude.uminho.pt
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.
Keywords: Autism, neurodevelopment, 3'untranslated region
