34个核心家系SLC26A4基因检测结果分析  

The Analysis of SLC26A4 Gene Testing in 34 Nuclear Families

作　　者：谢锦各 邓琳 程晓华[1] 赵丽萍[1] 阮宇[1] 文铖 于一丁 李悦 高杉 黄丽辉[1] XIE Jinge;DENG Lin;CHENG Xiaohua;ZHAO Liping;RUAN Yu;WEN Cheng;YU Yiding;LI Yue;GAO Shan;HUANG Lihui(Department of Otolaryngology Head and Neck Surgery,Beijing Tongren Hospital,Capital Medical University,Beijing Institute of Otolaryngology,Key Laboratory of Otolaryngology Head and Neck Surgery(Capital Medical University),Ministry of Education,Beijing 100005,China)

机构地区：[1]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),北京100005

出　　处：《听力学及言语疾病杂志》2025年第1期29-33,共5页Journal of Audiology and Speech Pathology

基　　金：国家自然科学基金(82071064);首都卫生发展科研专项(首发2022-2-1092)。

摘　　要：目的 分析34个核心家系SLC26A4基因测序结果,对核心家系中耳聋基因筛查为SLC26A4单杂合突变的子代进行基因诊断,为遗传咨询提供依据。方法 回顾性分析34个核心家系的SLC26A4基因检测结果,其中每个核心家系中的子代耳聋基因均为SLC26A4基因单杂合突变。核心家系中基因测序检出第二突变位点的子代,分析其听力学结果;若患有听力损失,分析其颞骨CT或内耳MRI检查结果。结果 基因测序结果表明34个核心家系中,子代为SLC26A4基因单杂合突变23例(67.65%,23/34),其父母一方为SLC26A4基因单杂合突变。子代检出第二突变位点者11例(32.35%,11/34),其中子代为SLC26A4基因复合杂合突变7例(63.64%,7/11),其父母双方均为SLC26A4基因单杂合突变,这7例中,确诊听力损失3例,均诊断为大前庭水管综合征,余4例听力正常;子代为SLC26A4基因同链双杂合突变(顺式突变)4例(36.36%,4/11),其父母一方为SLC26A4基因同链双杂合突变,这4例子代听力均正常。34个核心家系中,3对父母双方为SLC26A4基因单杂合突变,且突变位点均有致病性,再生育遗传性听力损失患儿的风险为25%。结论 耳聋基因芯片筛查的位点有限,利用基因测序技术对核心家系进行测序,可进一步明确子代基因的突变类型并对父母再生育提供指导。Objective To investigate the sequencing results of the SLC26A4 gene in 34 nuclear families and the genetic diagnosis on the offspring in the nuclear families who have been screened for SLC26A4 gene single-allele mutation in the deafness genetic screening,to provide a basis for genetic consulting.Methods A retrospective analysis was performed on the results of SLC26A4 gene testing in 34 nuclear families,in which the offspring with SLC26A4 gene single-allele mutation in deafness genetic screening of each nuclear family.The offspring of 34 nuclear families with the second mutation site detected by sequencing,their audiological results were included in the analysis;and if they suffered from hearing loss,the results of temporal bone CT or inner ear MRI were also included in the analysis.Results The sequencing results of 34 nuclear families showed that there were 23 offsprings(67.65%,23/34)with SLC26A4 gene single-allele mutation,and one parent was SLC26A4 gene single-allele mutation.There were 11 offsprings(32.35%,11/34)with second site,among which 7 offsprings(63.64%,7/11)with SLC26A4 gene complex heterozygous mutations,and their parents were SLC26A4 gene single-allele mutations.Among the 7 offsprings with SLC26A4 gene complex heterozygous mutation,3 cases were with hearing loss,all of which were diagnosed as large vestibular aqueduct syndrome,and the other 4 cases were normal.While 4 offsprings(36.36%,4/11)with SLC26A4 gene double heterozygous mutation(cis mutation),and one parent was SLC26A4 gene double heterozygous mutation.The hearing 4 offsprings with SLC26A4 gene double heterozygous mutations were normal.Among the 34 nuclear families,3 pairs of parents were SLC26A4 gene single-allele mutation,and both mutation sites were pathogenic,risk of reproducing children with hereditary hearing loss was 25%.Conclusion The detection sites of deafness gene chip are limited.Using gene sequencing technology to sequence the nuclear family can further clarify the gene mutation type in offspring and provide guidance for parents

关 键 词：SLC26A4基因 基因筛查 基因突变 基因测序 听力损失 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]