title: A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male.
abstract: MeCP2 is a protein that functions as a key factor in epigenetic transcriptional regulation. Mutations in MECP2 gene have been reported as being the major cause of Rett syndrome. These mutations may also cause a wide spectrum of neurological disorders in males. Here, we report the identification of the mutation p.P405L in a 19-year-old Brazilian male with mental retardation. This variant is localized in a highly conserved aminoacid from the carboxy terminal domain and may affect the protein function. Segregation analysis on the patient's mother revealed that this is a de novo mutation and it was not identified in the control sample. The programs SIFT, PolyPhen and A-GVGD considered that the p.P405L may be damaging. Despite the high frequency of non pathogenic variants that have been identified in this gene, our data lead us to consider the p.P405L a disease-causing mutation.
authors.affiliation: Serviço de Genética Humana, Departamento de Biologia Celular e Genética, Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro, Maracanã, 20550-013 Rio de Janeiro, RJ, Brazil.
authors.forename: Mário
authors.initials: M
authors.lastname: Campos
authors.forename: Cláudia Bueno
authors.initials: CB
authors.lastname: Abdalla
authors.forename: Adriana Vaz
authors.initials: AV
authors.lastname: dos Santos
authors.forename: Cristiane Pinheiro
authors.initials: CP
authors.lastname: Pestana
authors.forename: Jussara Mendonça
authors.initials: JM
authors.lastname: dos Santos
authors.forename: Cíntia Barros
authors.initials: CB
authors.lastname: Santos-Rebouças
authors.forename: Márcia Mattos Gonçalves
authors.initials: MM
authors.lastname: Pimentel
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D017124:Conserved Sequence; D005145:Face / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D020033:Protein Isoforms; D019956:Stereotypic Movement Disorder / Q000235:genetics; D055815:Young Adult
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D020033:Protein Isoforms