双侧后天性中重度耳聋患者耳聋基因筛查研究  

Genetic screening of deafness in patients with bilateral acquired moderate to severe deafness

作　　者：李平 黄小五 陈飒 陈俞 LI Ping;HUANG Xiaowu;CHEN Sa;CHEN Yu(Department of Otolaryngology,Shenzhen Hospital of Southern Medical University,Guangdong Province,Shenzhen518100,China)

机构地区：[1]南方医科大学深圳医院耳鼻咽喉科,广东深圳518100

出　　处：《中国当代医药》2024年第33期26-29,共4页China Modern Medicine

基　　金：广东省深圳市宝安区基础研究(医疗卫生类)立项项目(2021JD346)。

摘　　要：目的通过对双侧后天性中重度耳聋患者耳聋基因检测,分析中重度耳聋与基因突变的关系,探讨耳聋基因突变的特点。方法选取2019年3月至2023年10月南方医科大学深圳医院门诊就诊的14例双侧后天性中重度语后聋患者作为研究对象,对14例患者及其家系成员进行病史采集、全身检查、听力学评估,以及颞骨CT检查;提取家系成员血液或唾液,行遗传性耳聋下一代测序技术(NGS)Panel基因筛查,先证者检测结果经数据分析滤过后确定突变基因位点,后续其直系亲属经直接Sanger测序验证,对结果进行分析。结果14例患者发现17个突变基因,其中15个突变基因并非国内常见的4个耳聋基因。结论通过NGS Panel基因检测可以初步了解双侧后天性中重度耳聋的基因突变特点,高通量基因捕获测序技术是遗传性耳聋的有效诊断工具。Objective To analyze the relationship between moderate and severe deafness and gene mutation in patients with bilateral acquired moderate to severe deafness,and to explore the characteristics of gene mutation in deafness.Methods A total of 14 patients with bilateral acquired moderate to severe deafness were selected from Shenzhen Hospital of Southern Medical University from March 2019 to October 2023 as the study objects.Medical history collection,general examination,audiological assessment and CT examination of temporal bone were performed on the 14 patients and their family members.Blood or saliva of family members was extracted and next generation sequencing(NGS)Panel gene screening was performed for hereditary deafness.The mutation gene locus was determined after data analysis and filtering of the test results of the proband,and the results of the immediate family members were verified by direct Sanger sequencing and analyzed.Results There were 17 mutated genes in 14 patients,15 of which were not the 4 common deafness genes in China.Conclusion NGS Panel gene detection can be used to understand the genetic mutation characteristics of bilateral acquired moderate to severe deafness.High-throughput gene capture and sequencing technology is an effective diagnostic tool for hereditary deafness.

关 键 词：后天性 中重度耳聋 耳聋基因 基因筛查 遗传性耳聋 

分 类 号：R764[医药卫生—耳鼻咽喉科]