温州地区非综合征型耳聋患者GJB3基因c.538C>T突变及其临床表型分析  

GJB3 c.538C>T mutation and its relation with clinical phenotype in patients with non-syndromic hearing loss in Wenzhou area

作　　者：张梦思 项时琼 项延包 ZHANG Mengsi;XIANG Shiqiong;XIANG Yanbao(Department of Gynecology and Obstetrics,Wenzhou Central Hospital,Wenzhou 325000,China)

机构地区：[1]温州市中心医院妇产科,325000 [2]温州市中心医院检验科,325000

出　　处：《浙江医学》2020年第11期1162-1164,共3页Zhejiang Medical Journal

基　　金：浙江省医药卫生科技计划项目(2020KY922)。

摘　　要：目的探讨温州地区非综合性耳聋患者GJB3基因c.538C>T突变情况,结合患者的临床表型分析c.538C>T突变的致病性。方法收集589例非综合征型耳聋患者的家系临床资料,采用耳聋基因芯片或Sanger测序法检测患者GJB2、SLC26A4、线粒体12SrRNA基因以及GJB3基因c.538C>T突变情况,并以1288例听力正常的婚育女性作为对照,观察两者GJB3基因c.538C>T突变检出率的差异。结果共检出5例耳聋患者和3例正常婚育女性携带GJB3基因c.538C>T突变,分别占0.85%和0.23%,两者检出率比较差异无统计学意义(P>0.05)。5例携带该突变的耳聋患者其临床表型均为重度或极重度全频听力损失性耳聋,与文献报道有差异。结论与国内其他地区相同,GJB3基因c.538C>T突变在温州地区非综合征型耳聋患者中的检出率低;该突变可能并非是上述耳聋患者的真正致聋原因;该位点致病性仍有待更大样本的数据进一步研究。Objective To investigate the mutation rate of GJB3 c.538C>T and its relation with clinical phenotype in patients with non-syndromic hearing loss(NSHL)in Wenzhou area.Methods The blood samples and clinical data of 589 patients with NSHL were collected(deafness group).GJB2,SLC26A4,mitochondrial 12SrRNA and GJB3 c.538C>T mutation were detected by Sanger sequencing or microarray.Meanwhile,1288 normal individuals were enrolled as control group.The difference in the carrier rate of GJB3 c.538C>T mutation between the deafness and normal groups was analyzed.Results Heterozygous mutation of GJB3 c.538C>T was detected in 5 NSHL patients and 3 normal individuals were detected with a carrier rate of 0.85%(5/589)and 0.23%(3/1288),respectively(P>0.05).All five patients with GJB3 c.538C>T mutation had the sever or profound hearing loss with all frequencies,which were different with reported in literature.Conclusion The carrier rate of GJB3 c.538C>T mutation is low in Wenzhou NSHL patients,which is consistent with the findings in most Chinese populations.The GJB3 c.538C>T mutation may not contribute to the clinical phenotype of hearing loss and the pathogenicity of this mutation should be further studied.

关 键 词：非综合征型耳聋 GJB3 c.538C>T突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]