| GJB2基因致聋突变与听力变化研究进展 |
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| 引用本文： | 王现蕾,黄丽辉,杜亚婷,王雪瑶.GJB2基因致聋突变与听力变化研究进展[J].国际耳鼻咽喉头颈外科杂志,2017,41(6):322. |
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| 作者姓名： | 王现蕾 黄丽辉 杜亚婷 王雪瑶 |
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| 作者单位： | 100730 北京,首都医科大学附属北京同仁医院耳鼻咽喉头颈外科,北京市耳鼻咽喉科研究所,耳鼻咽喉头颈科学教育部重点实验室(首都医科大学) |
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| 基金项目： | 北京市自然科学基金资助项目(7172052)Supported by Beijing Natural Science Foundation |
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| 摘 要： | GJB2基因突变是常染色体隐性遗传非综合征型聋最常见的原因，约占该耳聋人群的50%。既往研究认为，GJB2基因致聋突变所致听力损失多为先天性、双侧对称性和非渐进性，程度为中-重度，但近年来的研究证实GJB2基因突变可引起迟发性、渐进性和轻中度听力损失。本文重点对GJB2基因突变所引起的迟发性、渐进性听力损失进行综述，旨在了解GJB2基因突变所致听力变化的特点，为临床遗传咨询提供依据。
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| 关 键 词： | GJB2 基因 突变 听力 |
Research progress of the GJB2 gene deafness-causing mutation and it's characteristics of hearing change |
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| Wang Xianlei,Huang Lihui,Du Yating,Wang Xueyao.Research progress of the GJB2 gene deafness-causing mutation and it's characteristics of hearing change[J].International Journal of Otolaryngology-Head and Neck Surgery,2017,41(6):322. |
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| Authors: | Wang Xianlei Huang Lihui Du Yating Wang Xueyao |
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| Abstract: | GJB2 gene mutation account for 50% autosomal recessive inheritance pattern and nonsyndromic hearing loss.Previous study considered that GJB2 gene deafness-causing always leads to congenital,bilaterally symmetric, non-progressive and profound hearing loss.Research in recent years indicates that GJB2 gene deafness-causing mutation also leads tolate-onset and progressive hearing loss.This paper reviewed the studies on GJB2-associated late-onset and progressive hearing loss and explored the characteristics of hearing change. |
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| Keywords: | GJB2 Gene Mutation Hearing |
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