巴西一个患有X连锁智力障碍的家族中存在ARX基因c.428 - 451dup（24bp）突变。

ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.

作者信息

Gestinari-Duarte Raquel de Souza, Santos-Rebouças Cíntia Barros, Boy Raquel Tavares, Pimentel Márcia Mattos Gonçalves

机构信息

Human Genetics Service, Department of Cell Biology and Genetics, State University of Rio de Janeiro, Rua São Francisco Xavier 524, PHLC sala 218, Maracanã, Rio de Janeiro 20550-013, Brazil.

出版信息

Eur J Med Genet. 2006 May-Jun;49(3):269-75. doi: 10.1016/j.ejmg.2005.08.003. Epub 2005 Sep 26.

DOI:10.1016/j.ejmg.2005.08.003

PMID:16762829

Abstract

The recently identified gene ARX (Aristalles-Related Homeobox) codifies the ARX protein, an important transcript factor that belongs to one of the three largest classes of homeoproteins, the paired (Prd) class. Several mutations have been identified in ARX gene, which is responsible for a wide spectrum of phenotypes, including syndromic as well as non syndromic forms of mental retardation. One of the mutations, the c.428-451 dup (24 bp) is the most frequent identified in the ARX gene. This duplication leads to an expansion of the second polyalanine tract of ARX protein. We have reported the identification of a Brazilian family segregating the c.428-451 dup (24 bp) in ARX gene.

摘要

最近发现的ARX基因（Aristalles相关同源框基因）编码ARX蛋白，ARX蛋白是一种重要的转录因子，属于同源异形蛋白三大类之一的配对（Prd）类。已在ARX基因中鉴定出多种突变，这些突变导致了广泛的表型，包括综合征型和非综合征型智力障碍。其中一种突变，即c.428 - 451 dup（24bp），是在ARX基因中最常发现的。这种重复导致ARX蛋白的第二个聚丙氨酸序列扩展。我们报道了在一个巴西家族中鉴定出ARX基因的c.428 - 451 dup（24bp）突变呈分离状态。