title: A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder.
abstract: Point mutations and genomic rearrangements in the MECP2 gene are the major cause of Rett syndrome (RTT), a pervasive developmental disorder affecting almost exclusively females. MECP2 mutations were also identified in patients with autism without RTT. In this study, we present a mutational and gene dosage analysis of the MECP2 in a cohort of 60 Brazilian males with autistic features but not RTT. No duplication or deletion was identified. Sequencing analysis, however, revealed four MECP2 sequence variations. Three of them were previously discussed as non disease causing mutations and one mutation (p.T160S) was novel. It affects a highly conserved amino acid located within the MBD domain, a region of the protein involved in specific recognition and interaction with methylated CpG dinucleotides. The p.T160S variation was not found in the control sample. This mutation may represent a potential genetic factor for autistic phenotype and should be object of further studies.
authors: Serviço de Genética Humana, Departamento de Genética, Universidade Estadual do Rio de Janeiro, Brazil.
authors: Mário
authors: M
authors: Campos
authors: Cristiane Pinheiro
authors: CP
authors: Pestana
authors: Adriana Vaz
authors: AV
authors: dos Santos
authors: Frederique
authors: F
authors: Ponchel
authors: Sarah
authors: S
authors: Churchman
authors: Cláudia Bueno
authors: CB
authors: Abdalla-Carvalho
authors: Jussara Mendonça
authors: JM
authors: dos Santos
authors: Flavia Lima
authors: FL
authors: dos Santos
authors: Carla Gruber
authors: CG
authors: Gikovate
authors: Cíntia Barros
authors: CB
authors: Santos-Rebouças
authors: Márcia Mattos Gonçalves
authors: MM
authors: Pimentel