Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-linked mental retardation in both males and females. In this study, we present the first screening in the MECP2 gene in a Brazilian cohort of 239 unrelated males with idiopathic mental retardation. Eight sequence variations were observed in 10 patients: one novel putative pathogenic variant, two never described variants of unknown pathogenic value and five non-pathogenic variations. We conclude that in mentally retarded Brazilian males, non-pathogenic variants in the MECP2 gene are more common than actual pathogenic mutations, and therefore alterations in this gene have a weak relationship with mental retardation in males.
Campos
Mário
M
Human Genetics Service, Department of Cell Biology and Genetics, State University of Rio de Janeiro, Rua São Francisco Xavier 524, Maracanã, Rio de Janeiro 20550-013, Brazil.
Abdalla
Cláudia Bueno
CB
Santos-Rebouças
Cíntia Barros
CB
dos Santos
Adriana Vaz
AV
Pestana
Cristiane Pinheiro
CP
Domingues
Mariana Lopes
ML
dos Santos
Jussara Mendonça
JM
Pimentel
Márcia Mattos Gonçalves
MM
D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000235:genetics / Q000523:psychology; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology; D007438:Introns / Q000235:genetics; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D004247:DNA