TECTA基因与听力损失相关疾病的研究进展

Research Progress on TECTA Gene and Diseases Related to Hearing Loss

听力损失是影响正常人际交流的常见因素之一,近年来,由于环境的改善和感染的控制,遗传因素在听力损失病因所占比例相对升高,其中非综合征型遗传性听力损失达70%。目前已发现与非综合征型听力损失相关的致病基因有124个,其中TECTA(alpha-tectorin,α盖膜蛋白)是常染色体显性遗传性感音神经性听力损失主要致病基因之一,其突变可能造成DFNA8/12型耳聋、DFNB21型耳聋、雅各布森综合征中的听力损失。文献共报道了80余个TECTA基因突变位点可能致听力损失,并发现其突变位点与听力损失表型密切相关。鉴于TECTA基因结构功能及发病机制研究对听力损失相关疾病的诊断和防治有重要作用,本文对TECTA基因结构、已知突变及相关疾病研究现状展开综述,旨在了解TECTA基因及其蛋白结构和功能的基础上,系统分析该基因的突变与听力损失的相关性,为遗传筛查、精准诊断、未来基因治疗提供科学指导。

Hearing loss is one of the common factors affecting normal interpersonal communication.In recent years,due to the improvement of the environment and the control of infection,genetic factors account for a relatively high proportion in the causes of hearing loss,of which 70%are nonsyndromic hearing loss.At present,124 causative genes associated with nonsyndromic hearing loss have been identified,including the alpha-tectorin(TECTA)gene.The gene is one of the major causative genes for autosomal dominant sensorineural hearing loss and mutations in the gene are responsible for DFNA8/12,DFNB21,and hearing loss in Jacobsen syndrome.To date,more than 80 TECTA gene mutations that may cause diseases have been reported in the literature,and the mutation sites were found to be closely related to the hearing loss phenotype.In view of the important role of the research on the structure,function and pathogenesis of TECTA gene in the diagnosis and prevention of diseases related to hearing loss,this paper reviews the research status of TECTA gene structure,known mutations and related diseases,aiming to make a systematic analysis of the correlation between the mutation of TECTA gene on the basis of understanding the structure and function of TECTA gene and its protein and hearing loss and provide scientific guidance for genetic screening,accurate diagnosis of diseases and future gene therapy.