贵州省37例基因筛查阴性耳聋患者全外显子测序结果分析  

Results of Whole-Exome Sequencing in 37 Deaf Patients with Negative Genetic Screening in Guizhou

作　　者：岳凤娟[1] 韩巍[1] 张嫄[1] 曹祖威[1] YUE Fengjuan;HAN Wei;ZHANG Yuan;CAO Zuwei(Center for Rehabilitative Auditory Research,Guizhou Provincial People's Hospital,Guiyang 550005,China)

机构地区：[1]贵州省人民医院健康体检中心,贵阳550005

出　　处：《中华耳科学杂志》2025年第1期65-68,共4页Chinese Journal of Otology

基　　金：贵州省科技计划项目(QKHJC〔2017〕1113;QKHPTRC〔2020〕5011);贵州省高层次创新型人才项目(gzwjrs2020-001)。

摘　　要：目的了解全外显子测序在贵州省耳聋患者病因诊断中的应用价值。方法回顾性纳入2022年1月至2023年4月贵州省人民医院听力科收治的永久性听力障碍患者37例。分析所有接受全外显子测序患者的数据资料。结果未发现突变位点1例,至少1个位点突变36例,检出率97.30%;隐性遗传的单杂合突变未能明确病因2例,复合杂合突变或纯合突变34例。根据美国医学遗传学和基因组学学会指南,55个突变位点中明确致病16个(29.09%),疑似致病15个(27.27%),致病性不明确24个(43.64%),突变位点未见文献报道28个(50.91%)。结论贵州省耳聋患者热点致聋位点与全国存在差异,全外显子测序在贵州省耳聋患者病因诊断中具在重要的作用。贵州省耳聋遗传基因复杂多样,存在大量未发现的耳聋突变位点,需进一步进行基础与临床研究,以明确其致病性。Objective To assess the value of whole-exome sequencing(WES)in the etiological diagnosis of deafness in Guizhou.Methods Data of 37 patients with permanent hearing impairment who visited the Center for Rehabilitative Auditory Research of Guizhou Provincial People's Hospital from January 2022 to April 2023 and underwent whole exome sequencing were retrospectively analyzed.Results All but 1 patient(97.30%)were found to carry at least one variant,involving single heterozygous mutations with recessive inheritance and unclear etiology in 2 cases,and compound heterozygous or homozygous mutations in the remaining 34.According to the ACMG guidelines,16 of the 55 variants found(29.09%)were pathogenic,15(27.27%)were likely pathogenic and 24(43.64%)were of uncertain significance.Additionally,28 of the variants(52.73%)had not been previously reported.Conclusion Hotspot mutations in Guizhou appear to be different from other areas.WES plays an important role in etiological diagnosis of deafness in Guizhou.Deafness genes can be complex and diversed in Guizhou,with a large number of novel variants.Further basic and clinical research is needed to clarify their pathogenicity.

关 键 词：耳聋 基因筛查 全外显子测序 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]