PLS1基因突变致非综合征型耳聋的研究进展  

Research Progress of PLS1 Gene and Nonsyndromic Hereditary Deafness

作　　者：熊奕康 王海伟 黄海龙[2] 徐两蒲[2] XIONG Yikang;WANG Haiwei;HUANG Hailong;XU Liangpu(The Frist Department of Clinical Medicine,Fujian University of Traditional Chinese Medicine,Fuzhou 350122,China;不详)

机构地区：[1]福建中医药大学第一临床医学院,福州350122 [2]福建省妇幼保健院/福建医科大学附属医院医学遗传诊疗中心,福建省产前诊断与出生缺陷重点实验室

出　　处：《中华耳科学杂志》2024年第2期317-321,共5页Chinese Journal of Otology

基　　金：国家自然科学基金面上项目(82371858);福建省自然科学基金(2021J02054)。

摘　　要：PLS1基因(OMMI:602734)编码PLS1蛋白。PLS1蛋白是一种肌动蛋白捆绑蛋白,在横结肠、小肠末端和内耳细胞中均有表达,参与微绒毛的组成,有助于维持静纤毛的稳定性。研究发现,PLS1基因突变将导致其表达的PLS1蛋白被破坏,从而导致不同程度的轻度至重度进行性高频感音性耳聋。目前,在世界范围内已经报道了数例PLS1基因碱基替换突变突变导致常染色体显性非综合征型耳聋的病例。我们对PLS1基因突变导致非综合征型遗传性耳聋的研究进展予以综述。PLS1 gene(OMMI:602734)encodes PLS1 protein.PLS1 protein,an actin binding protein,is expressed in cells of the transverse colon,the end of the small intestine and the inner ear.It is involved in the composition of microvilli and contributes to the stability of the stereocilium.Studies have found that the PLS1 gene mutation will lead to the destruction of its expression of PLS1 protein,resulting in varying degrees of mild to severe progressive highfrequency hearing loss and sensorineural deafness.Several cases of autosomal dominant non-syndromic hearing loss due to base substitution mutations in the PLS1 gene have been reported worldwide.In this paper,we will review the research progress of nonsyndromic hereditary hearing loss caused by PLS1 gene mutations.

关 键 词：PLS1 DFNA76 非综合征型耳聋 遗传性耳聋 基因突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]