• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>GMS Current Posters in Otorhinolaryngology,Head and Neck Surgery >Prevalence and audiological profiles of SLC26A4 mutations in a large Western European Cochlear-Implant Program
【24h】

Prevalence and audiological profiles of SLC26A4 mutations in a large Western European Cochlear-Implant Program

机译：西欧大型人工耳蜗植入计划中SLC26A4突变的患病率和听觉特征

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

摘要

Abstract Mutations in SLC26A4 gene are believed to account for approximately 5% of all cases of recessive genetic deafness. These mutations can result in both syndromic and non-syndromic forms of deafness: the Pendred syndrome and DFNB4 hearing loss, respectively. To further characterize the prevalence of these mutations in hearing impaired Western Europeans, we performed direct sequencing of exons 6 (p.Leu236Pro), 8 (c.1001+GA, IVS8+1GA) and 10 (p.Thr416Pro) along with the flanking introns of 400 patients in our cochlear implant program. We found 1% (n=4) of patients to have homozygote mutant status, as well as an additional 1% (n=4) who were compound heterozygotes for mutant alleles. 10 further patients (2.5%) were simple heterozygotes. As such 2% (n=8) of the total cohort were revealed to have a genetic cause for the observed hearing loss. The results of this survey show SLC26A4 to be responsible for a significant proportion of the hearing loss in our cohort, and as such supports the screening of patients with early-onset sensorineural hearing loss.Der Erstautor gibt keinen Interessenkonflikt an.
机译：摘要据信SLC26A4基因突变占隐性遗传性耳聋所有病例的约5％。这些突变可导致综合症状性和非综合症状性耳聋：分别为Pendred综合征和DFNB4听力损失。为了进一步表征这些突变在听力受损的西欧人中的普遍性，我们对外显子6（p.Leu236Pro），8（c.1001 + G> A，IVS8 + 1G> A）和10（p.Thr416Pro）进行了直接测序。以及我们人工耳蜗植入计划中400位患者的侧翼内含子。我们发现1％（n = 4）的患者具有纯合子突变体状态，另外1％（n = 4）的患者是突变等位基因的复合杂合子。另外10例患者（2.5％）为单纯杂合子。因此，显示出总队列中的2％（n = 8）具有观察到的听力损失的遗传原因。这项调查的结果表明，SLC26A4在我们的队列中是造成听力损失的主要原因，因此有助于筛查早期发作的感音神经性听力损失的患者。

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