• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Case Reports in Genetics >Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability
【24h】

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

机译：外显子组测序确定导致小脑萎缩和智力残疾的新型排序Nexin 14基因突变。

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The autosomal recessive cerebellar ataxias (ARCA) affect both the central and the peripheral nervous systems. They are also characterized by a relatively high level of genetic heterogeneity with well over 40 genes already implicated. The present study aimed to identify the gene mutation responsible for a complex phenotype comprising cerebellar ataxia and intellectual disability segregating in an Omani consanguineous family. Homozygosity-guided exome data analysis identified a novel frameshift mutation (c.2319_2322del) within the sorting nexin 14 gene (SNX14), which predicts complete absence of the SNX14 encoded protein. Segregation within the family of the sequence variation is consistent with its pathogenic role. Importantly, loss-of-function mutations in SNX14 have recently been described as a cause of a clinically distinguishable recessive syndrome consisting of cerebellar atrophy, ataxia, coarsened facial features, and intellectual disability. This study expands the genetic diversity of ataxia genes in the Omani population and have important implications for the clinical and molecular diagnosis of this condition in affected individuals.
机译：常染色体隐性小脑共济失调（ARCA）影响中枢和周围神经系统。它们的特征还在于相对较高的遗传异质性，已经涉及了40多个基因。本研究旨在确定导致阿曼近亲家庭中包括小脑共济失调和智力残疾的复杂表型的基因突变。纯合子指导的外显子组数据分析在排序nexin 14基因（SNX14）中确定了一个新的移码突变（c.2319_2322del），该突变预测完全不存在SNX14编码的蛋白。序列变异家族内的分离与其致病作用一致。重要的是，最近已将SNX14中的功能丧失突变描述为临床上可区分的隐性综合征的病因，包括小脑萎缩，共济失调，面部特征粗大和智力残疾。这项研究扩大了阿曼人口共济失调基因的遗传多样性，并对该患病个体的这种状况的临床和分子诊断具有重要意义。

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