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 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.
Santos
Mónica
M
Life and Health Sciences Research Institute (ICVS), School of Health Sciences School, University of Minho, Braga, Portugal.
Yan
Jin
J
Temudo
Teresa
T
Oliveira
Guiomar
G
Vieira
José Pedro
JP
Fen
Jinong
J
Sommer
Steve
S
Maciel
Patrícia
P
D020413:3' Untranslated Regions / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger; D015518:Rett Syndrome / Q000235:genetics*
D020413:3' Untranslated Regions; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012333:RNA, Messenger