...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American journal of medical genetics, Part A >The ARX mutations: a frequent cause of X-linked mental retardation.
【24h】

The ARX mutations: a frequent cause of X-linked mental retardation.

机译：ARX突变：X连锁智力低下的常见原因。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The ARX gene mutations have been demonstrated to cause different forms of mental retardation (MR). Beside FMR1, in families with X-linked mental retardation (XLMR), the ARX dysfunction was demonstrated to be among the most frequent causes of this heterogeneous group of disorders. Nevertheless, in sporadic cases of MR, ARX mutations are extremely rare. In order to evaluate the frequency of ARX mutation in XLMR, we performed mutational analysis of ARX in 165 mentally retarded probands negative for FRAXA and belonging to families in which the condition segregates as an X-linked condition. The same recurrent mutation, an in frame 24 bp insertion (c.428-451 dup (24 bp)), was identified in five patients. In one family, the mother of two affected boys was found not to carry the mutation detected in her sons. These data suggest the presence of germline mosaicism for the mutation in the mother. Our results confirm the significant contribution of ARX mutations in the etiology of MR, especially in this group of patients selected for XLMR (3%). These data, together with those reported in the literature, imply that screening for c.428-451 dup (24 bp) mutation should be recommended in all patients with suspected XLMR.
机译：ARX基因突变已被证明会导致不同形式的智力低下（MR）。除了FMR1，在X连锁智力低下（XLMR）的家庭中，ARX功能障碍被证明是这种异质性疾病组的最常见原因。然而，在偶发性MR病例中，ARX突变极为罕见。为了评估XLMR中ARX突变的频率，我们对165例FRAXA阴性且属于X连锁病的家庭进行了ARX突变分析。在五名患者中鉴定出相同的复发突变，即在框内插入24 bp（c.428-451 dup（24 bp））。在一个家庭中，两个受影响男孩的母亲被发现没有携带其儿子中发现的突变。这些数据表明在母体中存在这种突变的种系镶嵌。我们的研究结果证实了ARX突变在MR病因中的重要贡献，特别是在选择XLMR的这一组患者中（3％）。这些数据以及文献报道的数据表明，在所有疑似XLMR患者中，均应建议筛查c.428-451 dup（24 bp）突变。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号