儿童双耳感音神经聋临床表现特点及GJB2、GJB3基因突变分析
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邯郸市眼科医院(邯郸市第三医院)

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Clinical manifestations of children with binaural sensorineural hearing loss and analysis of GJB2 and GJB3 gene mutations
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    [摘要]目的:探究并分析儿童双耳感音神经聋临床表现特点及缝隙连接蛋白26(GJB2)、缝隙连接蛋白31(GJB3)基因突变情况。方法:本研究选取2020年3月-2021年3月在本院健康体检及耳鼻喉门诊接受治疗的150例双耳感音神经性聋患儿作为研究对象,选择同期参与体检的150例听力正常的儿童作为对照组。试剂盒法提取血液白细胞中的基因组DNA,GJB2、GJB3基因采用编码区聚合酶链反应(PCR)进行检测。观察两组儿童GJB2、GJB3基因检测结果、双耳感音神经性聋儿童耳聋程度、不同程度双耳感音神经性聋儿童的GJB2、GJB3耳聋基因突变率、双耳感音神经性聋儿童双亲耳聋GJB2、GJB3耳聋基因突变情况。结果:GJB2基因致病突变5种(35insG、95G>A、176-191del16、235delC、257C>G)。GJB2基因突变共50例(33.33%),42例与235delC突变相关,占比84.00%。多态性基因改变3种(79G>A、341A>G、427C>T)。GJB3基因突变共6例(538C→T、547G→A)。对照组儿童GJB2基因突变共计3例(2.00%),致病突变有两种(95G>A、235delC),多态性基因改变有两种(79G>A、341A>G),未发现GJB3基因突变。研究组儿童235delC突变率显著高于对照组(P<0.05);双耳感音神经性聋儿童中重度及极重度患者占达到59.33%(89/150);不同程度双耳感音神经性聋儿童GJB2、GJB3耳聋基因突变率中极重度阳性检出率显著较高,分别为22.50%和7.5%;150例双耳感音神经性聋儿童父母中发现父亲GJB2基因突变有17例(5.67%),母亲基因突变有25例(8.33%);GJB3基因突变父亲有3例(1.00%),母亲有1例(0.33%);父母亲均未检验出2纯合突变和复合杂交突变以及GJB3基因突变。结论:目前临床暂无对双耳感音神经性耳聋的有效治疗方式,因此合理有效的预防极为重要,对儿童双耳感音神经聋GJB2、GJB3基因突变检测可以作为儿童治疗、预防的一项重要指导方法,利于降低耳聋的发病率。

    Abstract:

    [abstract] Objective:To explore and analyze the clinical characteristics of children's binaural sensory nerve deafness and the mutations of connexin 26(GJB2)and connexin 31(GJB3).Methods: In this study,150 children with binaural sensorineural hearing loss who were treated in our hospital's health checkup and ENT clinic from March 2020 to March 2021 were selected as the research objects, and 150 patients with normal hearing who participated in the physical examination during the same period were selected. Of children served as a control group. The kit method was used to extract genomic DNA from blood leukocytes, and the GJB2 and GJB3 genes are detected by polymerase chain reaction (PCR)in the coding region. Two groups of children GJB2 and GJB3 gene test results, the degree of deafness in children with binaural sensorineural hearing loss, the mutation rate of GJB2 and GJB3 genes in children with different degrees of binaural sensorineural hearing loss, and the mutation rate of GJB2 and GJB3 genes in children with binaural sensorineural hearing loss.GJB2 and GJB3 deafness gene mutations in parents' deafness were observed. Results: There were 5 pathogenic mutations in GJB2 gene(35insG,95G>A,176-191del16,235delC,257C>G).There were 50 cases of GJB2 gene mutation(33.33%),42 cases were related to 235delC mutation, accounting for 84.00%,and 3 kinds of polymorphic gene changes(79G>A,341A>G,427C>T).There were 6 cases of GJB3 gene mutation(538C→T,547G→A).A total of 3 children in the control group had GJB2 gene mutations(2.00%).There were two pathogenic mutations(95G>A,235delC),and two polymorphic gene changes(79G>A,341A>G).No GJB3 gene was found mutation. The mutation rate of 235delC in children in the study group was significantly higher than that in the control group(P<0.05);moderate to severe cases of binaural sensorineural hearing loss accounted for 59.33%(89/150);The mutation rates of GJB2 and GJB3 deafness genes in children with different degrees of binaural sensorineural hearing loss were significantly higher, which were 22.50%and 7.5%,respectively;Among 150 parents of children with binaural sensorineural hearing loss,17 cases(5.67%)of the father's GJB2 gene mutation were found, and 25 cases(8.33%)of the mother's gene mutation; There were 3 cases of GJB3 gene mutation in fathers(1.00%)and 1 case in mothers(0.33%);neither of the parents had detected 2 homozygous mutations, coincident hybrid mutations and GJB3 gene mutations. Conclusion: There is currently no clinically effective treatment for binaural sensorineural hearing loss. Therefore, reasonable and effective prevention is extremely important. For children with binaural sensorineural hearing loss, GJB2 and GJB3 gene mutation detection can be used as a treatment and prevention for children. Important guidance methods help reduce the incidence of deafness.

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  • 收稿日期:2021-06-30
  • 最后修改日期:2021-09-14
  • 录用日期:2021-09-17
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