| GJB2突变相关的迟发性遗传性聋研究进展 |
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| 引用本文： | 秦梦瑶,冯永,吴学文.GJB2突变相关的迟发性遗传性聋研究进展[J].中华耳科学杂志,2021(2):316-321. |
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| 作者姓名： | 秦梦瑶 冯永 吴学文 |
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| 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湖南省重点实验室 |
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| 基金项目： | 湖南省自然科学青年科学基金项目(2018JJ3842);国家自然科学基金项目(编号:8177041282)。 |
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| 摘 要： | GJB2基因突变是引发非综合征型遗传性聋最常见的原因之一.GJB2编码缝隙连接蛋白26(Connex-in26,Cx26),其表达在来源于外胚层的皮肤和耳蜗中.不同于以往的共识:GJB2基因突变导致先天性听力损失,近年来的分子遗传学研究发现GJB2基因突变也导致迟发性、渐进性听力损失.且听力损失常开始于高频,然后累及中...
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| 关 键 词： | GJB2 缝隙连接蛋白26 突变 迟发性 遗传性聋 |
Recent Research Progress on Late-onset Hereditary Hearing Loss Associated with GJB2 Gene Mutation |
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| QIN Mengyao,FENG Yong,WU Xuewen.Recent Research Progress on Late-onset Hereditary Hearing Loss Associated with GJB2 Gene Mutation[J].Chinese Journal of Otology,2021(2):316-321. |
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| Authors: | QIN Mengyao FENG Yong WU Xuewen |
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| Institution: | (Department of Otolaryngology Head and Neck Surgery,Hunan Province Key Laboratory of Otolaryngology Critical Diseases,Xiangya Hospital Of Central South University,Changsha,Hunan,China(410008)) |
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| Abstract: | GJB2 mutation is one of the most common causes of non-syndromic hereditary hearing loss(NSHL).GJB2 is expressed in ectoderm-derived tissues,such as the skin and cochlea,encoding a gap junction protein(Connexin26,Cx26).It is previously believed that all types of GJB2 mutation lead to congenital early-onset hearing loss.However,recent molecular genetics studies have found that some types of GJB2 mutation are actually related to late-onset and progressive hearing loss.Furthermore,the latter findings have also revealed that hearing loss can start at high frequencies and gradually extend to the middle-and low-frequency range.The current review will summarize research progresses on late-onset hereditary hearing loss caused by GJB2 mutations,so as to further promote research on its pathological mechanisms and to develop new treatments. |
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| Keywords: | GJB2 Connexin26 Mutation Late-onset Hereditary Hearing Loss |
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