title: Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
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%).
authors.affiliation: Programa de Genética, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.
authors.forename: Leila Schuindt
authors.initials: LS
authors.lastname: Monnerat
authors.forename: Aline Dos Santos
authors.initials: Ados S
authors.lastname: Moreira
authors.forename: Maria Carolina Viana
authors.initials: MC
authors.lastname: Alves
authors.forename: Cibele Rodrigues
authors.initials: CR
authors.lastname: Bonvicino
authors.forename: Fernando Regla
authors.initials: FR
authors.lastname: Vargas
mesh_terms: D001797:Blood Protein Electrophoresis; D001938:Brazil; D002648:Child; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2