title: The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.
abstract: In mammals, methyl-CpG binding proteins play a significant role in the control of gene expression through their association with chromatin-remodeling complexes. Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome and have also been reported in a number of X-linked mental retardation diseases. In this study, DNA samples from 363 male individuals with syndromic and non-syndromic mental retardation and other psychiatric diseases were screened for A140V (419C>T) mutation in the MECP2 gene, considered the most frequent MECP2 mutation in males. No 419C>T was found suggesting that the A140V mutation in the MECP2 gene is not a common cause of mental retardation in males. Recently, a new and abundant isoform of MECP2 was described, which has an alternative N-terminus, translated from exon 1, that was previously thought to be non-coding and has been excluded from many mutational screening, as well, the 5' and 3' UTR regions. We consider essential proceeding further screening in the whole extension of the MECP2 gene using clinically well-documented and larger sized sample to assure the overall contribution of MECP2 to mental retardation.
authors.affiliation: Departamento de Biologia Celular e Genética, Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro, Rua São Francisco Xavier, 524 PHLC, sala 218, Rio de Janeiro RJ 20550-013, Brazil.
authors.forename: Jussara Mendonça
authors.initials: JM
authors.lastname: dos Santos
authors.forename: Cláudia Bueno
authors.initials: CB
authors.lastname: Abdalla
authors.forename: Mário
authors.initials: M
authors.lastname: Campos
authors.forename: Cíntia Barros
authors.initials: CB
authors.lastname: Santos-Rebouças
authors.forename: Márcia Mattos Gonçalves
authors.initials: MM
authors.lastname: Pimentel
mesh_terms: D000293:Adolescent; D000409:Alanine / Q000235:genetics; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation; D014633:Valine / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C489325:MBD2 protein, human; D014633:Valine; D000409:Alanine