Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males

被引：13

作者：

Campos, Mario, Jr. ^{[1
]}

Abdalla, Claudia Bueno ^{[1
]}

Santos-Reboucas, Cintia Barros ^{[1
]}

dos Santos, Adriana Vaz ^{[1
]}

Pestana, Cristiane Pinheiro ^{[1
]}

Domingues, Mariana Lopes ^{[1
]}

dos Santos, Jussara Mendonca ^{[1
]}

Goncalves Pimentel, Marcia Mattos ^{[1
]}

机构：

[1] Univ Estado Rio de Janeiro, Serv Genet Humana, Dept Biol Celular & Genet, Inst Biol Roberto Alcantara Gomes, BR-20550013 Rio De Janeiro, Brazil

来源：

BRAIN & DEVELOPMENT | 2007年 / 29卷 / 05期

关键词：

MECP2; mental retardation; male patients; XLMR;

D O I：

10.1016/j.braindev.2006.09.012

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (c) 2006 Elsevier B.V. All rights reserved.

引用

页码：293 / 297

页数：5

共 39 条

[1] Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome [J].