Genotype-phenotype correlation in Brazillian Rett syndrome patients
| dc.contributor.author | De Lima F.T. | |
| dc.contributor.author | Brunoni D. | |
| dc.contributor.author | Schwartzman J.S. | |
| dc.contributor.author | Pozzi M.C. | |
| dc.contributor.author | Kok F. | |
| dc.contributor.author | Juliano Y. | |
| dc.contributor.author | Pereira L.D.V. | |
| dc.date.accessioned | 2024-03-13T01:36:05Z | |
| dc.date.available | 2024-03-13T01:36:05Z | |
| dc.date.issued | 2009 | |
| dc.description.abstract | Background: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. Purpose: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. Method: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. Results: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. Conclusion: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs. | |
| dc.description.firstpage | 577 | |
| dc.description.issuenumber | 3 A | |
| dc.description.lastpage | 584 | |
| dc.description.volume | 67 | |
| dc.identifier.doi | 10.1590/S0004-282X2009000400001 | |
| dc.identifier.issn | 1678-4227 | |
| dc.identifier.uri | https://dspace.mackenzie.br/handle/10899/37439 | |
| dc.relation.ispartof | Arquivos de Neuro-Psiquiatria | |
| dc.rights | Acesso Aberto | |
| dc.subject.otherlanguage | Genotype-phenotype correlation | |
| dc.subject.otherlanguage | Rett syndrome | |
| dc.title | Genotype-phenotype correlation in Brazillian Rett syndrome patients | |
| dc.type | Artigo | |
| local.scopus.citations | 8 | |
| local.scopus.eid | 2-s2.0-69749099201 | |
| local.scopus.updated | 2024-05-01 | |
| local.scopus.url | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=69749099201&origin=inward |