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2030-01-01
Sustainable Development Goals
03 Saúde e Bem-Estar
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IDENTIFICATION AND CHARACTERIZATION OF NOVEL SEQUENCE VARIATIONS IN MECP2 GENE IN RETT SYNDROME PATIENTS
Monnerat, Leila Schuindt et al. | Date Issued: 2010
Author
Monnerat, Leila Schuindt
Moreira, Aline dos Santos
Alves, Maria Carolina Viana
Bonvicino, Cibele Rodrigues
Vargas, Fernando Regla
Affilliation
Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genômica Funcional e Bioinformática. Plataforma Genômica, Sequenciamento de DNA PDTIS. Rio de Janeiro, RJ. Brasil.
Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.
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.
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
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%).
Keywords in Portuguese
Síndrome de Rett
Triagem de mutação
Doença dominante
Proteína 2 de Ligação a Metil-CpG
 
Keywords
MECP2
Rett syndrome
Mutation screening
X-linked dominant disease
 
Publisher
Elsevier
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.
DOI
10.1016/j.braindev.2009.11.007
ISSN
1872-7131