神经嵴发育异常导致综合征型耳聋的机制

doi:10.3724/SP.J.1005.2014.1131

遗传 ›› 2014, Vol. 36 ›› Issue (11): 1131-1144.doi: 10.3724/SP.J.1005.2014.1131

神经嵴发育异常导致综合征型耳聋的机制

刘亚兰^{1, 2, 3}, 张华⁴, 冯永^{1, 2, 3}

1. 中南大学湘雅医院耳鼻咽喉头颈外科,长沙 410008;
2. 耳鼻咽喉重大疾病研究湖南省重点实验室,长沙 410008;
3. 中国医学遗传学国家重点实验室,长沙 410078;
4. 上海交通大学医学院附属仁济医院耳鼻喉科,上海 200127

收稿日期:2014-06-26 出版日期:2014-11-20 发布日期:2014-10-28
通讯作者: 冯永,博士,教授,一级主任医师,研究方向：耳聋的临床及遗传学。E-mail: fengyong_hn@hotmail.com E-mail:a_lan123@163.com
作者简介:刘亚兰,博士,助理研究员,研究方向：分子遗传学研究。
基金资助:
国家自然科学基金项目(编号：81170923,81470705,81260160)和湖南省自然科学基金项目(编号：14JJ7009)资助

Progress in the study of syndromic hearing loss resulted from neural crest abnormalities

Yalan Liu^{1, 2, 3}, Hua Zhang⁴, Yong Feng^{1, 2, 3}

1. Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha 410008, China;
2. Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, China;
3. State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China;
4. Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China

Received:2014-06-26 Online:2014-11-20 Published:2014-10-28

摘要/Abstract

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。

关键词: 综合征型耳聋, 神经嵴, 基因突变, 基因互作

Abstract: More than 400 types of syndromic hearing loss (SHL) have been reported so far, in which Waardenburg syndrome (WS), congenital microtia syndrome (CMS), and large vestibular aqueduct syndrome (LVAS) are the most common ones in clinic. However, it is difficult to study the genetic basis and pathogenesis of SHL in a systematical way because of the strong clinical and genetic heterogeneity of SHL. Dysfunction of neural crest cells (NCC), which are caused by the gene interaction network extended from SOX10 and PAX3, are relevant to the phenotype of WS, CMS and LVAS. Our previous study also confirmed that the gene network was involved in the pathogenesis of WS. In this review, we summarize research progress in the pathogenic mechanisms of SHL resulted from defects in neural crest decelopment, and provide the gene interaction network of neural crest abnormalities resulting in SHL, and hope to provide research ideas and theoretical basis for the systematical study on pathogenesis of common SHL.

Key words: syndromic hearing loss, neural crest, gene mutation, gene interaction

刘亚兰, 张华, 冯永. 神经嵴发育异常导致综合征型耳聋的机制[J]. 遗传, 2014, 36(11): 1131-1144.

Yalan Liu, Hua Zhang, Yong Feng. Progress in the study of syndromic hearing loss resulted from neural crest abnormalities[J]. HEREDITAS(Beijing), 2014, 36(11): 1131-1144.

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神经嵴发育异常导致综合征型耳聋的机制

Progress in the study of syndromic hearing loss resulted from neural crest abnormalities

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