神经嵴发育异常导致综合征型耳聋的机制

发布时间：2018-06-04 23:22

本文选题：综合征型耳聋 + 神经嵴　；参考：《遗传》2014年11期

【摘要】：综合征型耳聋(Syndromic hearing loss,SHL)现已报道400多种,大多数发病率低,临床常见的有Waardenburg综合征(WS)、先天性小耳畸形综合征、前庭导水管扩大综合征等。因SHL具有极强的临床和遗传异质性,所以对其遗传基础及发病机制的研究变得十分困难。以SOX10和PAX3为中心的基因作用网络引起的神经嵴细胞功能异常与WS、小耳畸形及前庭导水管扩大等表型相关。本课题组前期研究也证实该基因网络参与WS的发病机制。文章针对神经嵴发育异常导致相关综合征型耳聋的发病机制的研究进展进行了系统的阐述,分析并归纳了与综合征型耳聋发病相关的神经嵴发育异常基因互作网络,以期为系统地研究常见综合征型耳聋致病基因的定位克隆以及发病机制提供研究思路和理论基础。
[Abstract]:Syndromic hearing loss-shl has been reported for more than 400-odd cases, most of which have low incidence. The common clinical manifestations are Waardenburg syndrome, congenital microauricular malformation syndrome, vestibular aqueduct enlargement syndrome and so on. It is difficult to study the genetic basis and pathogenesis of SHL because of its strong clinical and genetic heterogeneity. The neural crest cell dysfunction caused by SOX10 and PAX3 gene interaction network is associated with the phenotypes of WS, microauricular malformation and vestibular aqueduct enlargement. Our previous study also confirmed that the gene network is involved in the pathogenesis of WS. In this paper, the pathogenesis of syndromic deafness caused by dysplasia of neural crest is systematically described, and the interaction network of neural cristal dysplasia genes associated with the pathogenesis of syndromic deafness is analyzed and summarized. In order to provide a theoretical basis for the systematic study of the location cloning and pathogenesis of common syndromic deafness genes.
【作者单位】：中南大学湘雅医院耳鼻咽喉头颈外科;耳鼻咽喉重大疾病研究湖南省重点实验室;中国医学遗传学国家重点实验室;上海交通大学医学院附属仁济医院耳鼻喉科;
【基金】：国家自然科学基金项目(编号:81170923,81470705,81260160) 湖南省自然科学基金项目(编号:14JJ7009)资助
【分类号】：R764

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