Author | Monnerat, Leila Schuindt | |
Author | Moreira, Aline dos Santos | |
Author | Alves, Maria Carolina Viana | |
Author | Bonvicino, Cibele Rodrigues | |
Author | Vargas, Fernando Regla | |
Access date | 2017-08-31T15:12:52Z | |
Available date | 2017-08-31T15:12:52Z | |
Document date | 2010 | |
Citation | MONNERAT, Leila Schuindt; et al. Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. Brain & Development , v.32, p.843–848, 2010. | pt_BR |
ISSN | 1872-7131 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/20867 | |
Language | eng | pt_BR |
Publisher | Elsevier | pt_BR |
Rights | restricted access | pt_BR |
Subject in Portuguese | Síndrome de Rett | pt_BR |
Subject in Portuguese | Triagem de mutação | pt_BR |
Subject in Portuguese | Doença dominante | pt_BR |
Subject in Portuguese | Proteína 2 de Ligação a Metil-CpG | pt_BR |
Title | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients | pt_BR |
Type | Article | pt_BR |
DOI | 10.1016/j.braindev.2009.11.007 | |
Abstract | Rett syndrome (RS) is a neurodevelopmental disorder caused by mutations in MECP2 gene. Exons 2, 3, and 4, in addition to intronic and 3'UTR adjacent regions, were sequenced in 80 patients with RS. Twenty-nine sequence variations were detected in 49 patients, 34 (69.4%) patients with the classic form of RS, and 15 (30.6%) patients with atypical forms of RS. Thirteen of the 29 detected mutations represent novel sequence variations. Missense mutation T158M was the most commonly observed mutation, detected in nine patients (11.2%). Six hotspot pathogenic mutations (R133C, T158M, R168X, R255X, R270X, and R294X) were responsible for the phenotype in 26/80 patients (32.5%). | pt_BR |
Affilliation | Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genômica Funcional e Bioinformática. Plataforma Genômica, Sequenciamento de DNA PDTIS. Rio de Janeiro, RJ. Brasil. | pt_BR |
Affilliation | Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Biologia e Parasitologia de Mamíferos Silvestres Reservatórios. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil | pt_BR |
Subject | MECP2 | pt_BR |
Subject | Rett syndrome | pt_BR |
Subject | Mutation screening | pt_BR |
Subject | X-linked dominant disease | pt_BR |
e-ISSN | 0387-7604 | |
Embargo date | 2030-01-01 | |