...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Annals of Indian Academy of Neurology >Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy
【24h】

Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy

机译：早期发病癫痫患者PCDH19基因突变/缺失的鉴定

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

摘要

Background and Aims: PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The clinical manifestations are heterogeneous and the main features include early onset seizure, generalized or focal seizures sensitive to fever, and brief seizures occurring in clusters. The disorders exhibit a unique and unusual X-linked pattern of expression. We aimed to investigate PCDH19 mutations/deletions in patients with epilepsy and describe the clinical/molecular features. Methods: PCDH19 gene was analyzed in 35 Turkish female patients from 34 families with early-onset epilepsy via direct sequencing and multiplex ligation-dependent probe amplification analysis. Additionally, array comparative genomic hybridization analysis was performed in patients with whole gene deletion. Results: We identified 2 different heterozygous mutations in 2 unrelated probands (5. 7%) which were located in exon 1. Additionally, whole gene deletions were detected in dizygotic twin girls (5. 7%), who had distinct clinical features and the deletion was inherited from the unaffected father. The second twin suffered more severe clinical manifestations including autistic features, behavioral problems, mild-moderate mental retardation and seizures, which were under control with multidrug regimen when compared with the first twin. Conclusion: PCDH19 is a major causative gene in patients with epilepsy and further data is required to gain a better understanding of phenotype-genotype correlation. In addition to gene sequencing, deletion/duplication analysis will improve the molecular diagnosis in patients with clinical findings.
机译：背景和目标：编码Protocadherin 19的PCDH19基因与癫痫和智力残疾有关，主要是在受影响的女性中。临床表现是异质的，主要特征包括早发癫痫发作，敏感的癫痫发作，敏感或焦癫痫发作，以及在簇中发生的短暂癫痫发作。疾病表现出独特而异常的X链接模式。我们旨在探讨癫痫患者的PCDH19突变/缺失，并描述临床/分子特征。方法：PCDH19基因在35名土耳其女性患者中，通过直接测序和多重连接依赖性探针扩增分析。另外，阵列对比基因组杂交分析是在全基因缺失的患者中进行的。结果：我们在2个不相关的证书（5. 7％）中鉴定了2种不同的杂合酶突变，其位于外显子1中。另外，在Dizygotic Twin Girls（5. 7％）中检测到全基因缺失，他们具有不同的临床特征和删除是从未受影响的父亲继承。第二间双胞胎患有更严重的临床表现，包括自闭症特征，行为问题，轻度中等的精神迟发性和癫痫发作，与第一个双胞胎相比，在多药中的方案进行控制。结论：PCDH19是癫痫患者的主要致病基因，需要进一步的数据来获得更好地理解表型基因型相关性。除了基因测序外，缺失/复制分析将改善临床发现患者的分子诊断。

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