GJB2显性突变在中国耳聋人群中的分布及表型分析

发布时间：2018-10-11 17:40

【摘要】：目的:GJB2相关性耳聋患者主要为常染色体隐性遗传,对其导致的显性突变及综合征型聋报道较少,本研究总结分析中国感音神经性聋患者中GJB2基因显性遗传突变情况。方法:收集解放军总医院耳鼻喉研究所聋病分子诊断中心GJB2基因相关耳聋患者1 641例,回顾性分析其GJB2基因突变情况,总结显性遗传突变谱,进行相关听力、皮肤等相关表型的分析。结果:1 641例GJB2相关耳聋患者中9例为显性遗传(0.55%),其中较常见的突变为R75W、G130V、R143Q、p.R184Q,听力表型主要为重度-极重度感音神经性聋。其中1例患者表现为感音神经性聋伴掌跖角化症。结论:GJB2显性遗传在中国耳聋患者中存在一定比例,综合征型较少见,其听力表型差异较大,但主要为重度-极重度感音神经性聋。
[Abstract]:Objective: GJB2 associated deafness is mainly autosomal recessive inheritance, but there are few reports of dominant mutation and syndromic deafness caused by it. This study summarized and analyzed the GJB2 gene dominant genetic mutation in Chinese patients with sensorineural hearing loss. Methods: a total of 1 641 patients with deafness associated with GJB2 gene were collected from the Institute of Deafness Research Institute of Otolaryngology Research Institute of Chinese PLA General Hospital. The mutation of GJB2 gene was analyzed retrospectively, and the dominant genetic mutation spectrum was summarized, and related hearing was obtained. Analysis of related phenotypes such as skin. Results: of the 1 641 patients with GJB2 associated deafness, 9 were dominant (0. 55%), and the most common mutation was R75WN G130VN R143QP. The hearing phenotype was mainly severe-very severe sensorineural hearing loss. One patient presented sensorineural deafness with palmoplantar keratosis. Conclusion: there is a certain proportion of GJB2 dominant inheritance in deafness patients in China, syndrome type is rare, the hearing phenotypic difference is great, but mainly severe to very severe sensorineural hearing loss.
【作者单位】：解放军总医院耳鼻咽喉头颈外科;解放军总医院海南分院耳鼻咽喉头颈外科;
【基金】：科技支撑计划(No:2012BAI09B00) 国际自然科学基金重点项目(No:81230020) 国家自然科学基金青年基金(No:81200751) 博士后面上项目(No:2013M542450)
【分类号】：R764.43

【共引文献】