Publication
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
| dc.contributor.author | Santos, M | |
| dc.contributor.author | Yan, J | |
| dc.contributor.author | Temudo, T | |
| dc.contributor.author | Oliveira, G | |
| dc.contributor.author | Vieira, JP | |
| dc.contributor.author | Fen, J | |
| dc.contributor.author | Sommer, S | |
| dc.contributor.author | Maciel, P | |
| dc.date.accessioned | 2015-11-11T12:12:14Z | |
| dc.date.available | 2015-11-11T12:12:14Z | |
| dc.date.issued | 2008 | |
| dc.description.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. Five3'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. | pt_PT |
| dc.identifier.citation | Dis Markers. 2008; 24 (6):319-24. | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/2337 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Hindawi | pt_PT |
| dc.subject | 3' Untranslated Regions/genetics | pt_PT |
| dc.subject | Intellectual Disability/genetics | pt_PT |
| dc.subject | Methyl-CpG-Binding Protein 2/genetics | pt_PT |
| dc.subject | Rett Syndrome/genetics | pt_PT |
| dc.subject | Genetic Variation | pt_PT |
| dc.subject | Genotype | pt_PT |
| dc.subject | Methyl-CpG-Binding | pt_PT |
| dc.subject | Methyl-CpG-Binding Protein 2/metabolism | pt_PT |
| dc.subject | Mutation | pt_PT |
| dc.subject | Phenotype | pt_PT |
| dc.subject | Polymerase Chain Reaction | pt_PT |
| dc.subject | Female | pt_PT |
| dc.subject | HDE NEU PED | pt_PT |
| dc.title | 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 | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 324 | pt_PT |
| oaire.citation.issue | 6 | pt_PT |
| oaire.citation.startPage | 319 | pt_PT |
| oaire.citation.volume | 24 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |