SLC26A4基因新发突变导致前庭水管扩大的分析与研究  

Analysis and investigation of novel mutations in the SLC26A4 gene causing enlarged vestibular aqueduct

作　　者：王政[1,2] 陈丁莉 宋学东[2] 张小芳[2] 杨骁[2] 王峥 江子月 梁星宇 李守霞 WANG Zheng;CHEN Dingli;SONG Xuedong;ZHANG Xiaofang;YANG Xiao;WANG Zheng;JIANG Ziyue;LIANG Xingyu;LI Shouxia(Hebei North University,Zhangjiakou,Hebei 075000,China;Department of Laboratory Medicine,Handan Central Hospital,Handan,Hebei 056001,China)

机构地区：[1]河北北方学院,河北张家口075000 [2]邯郸市中心医院检验科,河北邯郸056001

出　　处：《中国优生与遗传杂志》2024年第3期476-483,共8页Chinese Journal of Birth Health & Heredity

基　　金：河北省医学科学研究课题计划(20191832)。

摘　　要：目的研究河北邯郸地区耳聋患者SLC26A4基因突变情况,并对患儿进行分子遗传学研究,探寻致病原因。方法采集邯郸市特殊教育学校75例和邯郸学院94例耳聋患者静脉血液样本,通过聚合酶链反应(PCR),其扩增产物行Sanger直接测序法进行测序。结果在169例耳聋患者中,SLC26A4基因突变患者有27例(15.98%),复合杂合突变18例(10.65%),纯合突变9例(5.33%)。同时还发现了4个新发突变位点,分别为c.197A>C(p.K66T)、c.688C>A(p.Q230K)、c.712delA(p.Ile238Leufs*51)和c.1649T>G(p.F550C),其中1例前庭水管扩大患儿为c.919-2A>G和c.712delA复合杂合突变,c.919-2A>G为致病突变,而c.712delA为疑似致病突变,推测复合杂合突变c.919-2A>G和c.712delA为致聋原因。结论SLC26A4为河北邯郸地区常见的耳聋致病基因,同时c.919-2A>G和c.2168A>G为最常见的突变位点,通过Sanger测序发现SLC26A4基因新发突变c.712delA为一患儿致聋原因。Objective The study aims to investigate SLC26A4 gene mutations in adolescent deaf patients in Handan,Hebei Province,China.It also focuses on exploring the molecular genetics of a child with enlarged vestibular aqueduct to understand the underlying causes of this condition.Methods Blood samples were obtained from 75 individuals from Handan Special Education School and 94 individuals from Handan University who had non-syndromic deafness.The 20 exons of the SLC26A4 gene were amplified using polymerase chain reaction(PCR),and the resulting PCR products were subjected to Sanger direct sequencing.Results Among the 169 adolescent deaf patients,27(15.98%)patients had mutations in the SLC26A4 gene.This included 18(10.65%)patients with compound heterozygous mutation deafness and 9(5.33%)patients with the homozygous mutation.In addition,four new mutation sites were identified:c.197A>C(p.K66T),c.688C>A(p.Q230K),c.712delA(p.Ile238Leufs*51),and c.1649T>G(p.F550C).A compound heterozygous mutation of c.919-2A>G and c.712delA was identified in one of the children with an enlarged vestibular aqueduct.c.919-2A>G was confirmed to be a pathogenic mutation site,while c.712delA was suspected to be a pathogenic mutation site.Based on this evidence,it is speculated that the compound heterozygous mutations of c.919-2A>G and c.712delA are the underlying causes of deafness in this case.Conclusion SLC26A4 is indeed a commonly implicated gene in deafness cases in the Handan region.The mutations c.919-2A>G and c.2168A>G have been identified as the most frequent mutation sites associated with this gene.Interestingly,during Sanger sequencing,a novel mutation c.712delA in the SLC26A4 gene was found to be the cause of deafness in a child.

关 键 词：非综合征性耳聋 Sanger测序 SLC26A4 基因突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]