OTOF基因突变在非综合征性聋中的研究进展

Research Progress on OTOF Gene Mutations in Non-syndromic Deafness

OTOF基因是一种常见的非综合征性常染色体隐性遗传基因,编码Otoferlin,在胚胎不同时期分别在内毛细胞、外毛细胞和螺旋神经节细胞中表达,Otoferlin的表达与神经元突触传递密切相关,OTOF基因突变引起的Otoferlin的表达异常会引起听神经病。对该基因的结构及功能进行研究有助于了解人类听觉神经系统的发育,筛查突变位点有助于发现该基因的常见突变位点,对于了解听神经病的发病原因以及研究治疗策略具有重要指导意义。

The OTOF gene is a common non-syndromic autosomal recessive gene that encodes Otoferlin, which is expressed in inner and outer hair cells and spiral ganglion cells at different embryonic stages. The expression of Otoferlin is closely related to neuronal synaptic transmission and abnormal expression of Otoferlin caused by OTOF gene mutation can cause auditory neuropathy. Research on the structure and function of this gene is helps increase understanding of the development of human auditory nervous system. Screening is helpful in finding common mutation sites of this gene, which is of great significance for understanding the pathogenesis of and developing treatment strategies for auditory neuropathy.