<i>GJB2</i>基因致聋突变儿童听力进展的随访研究

文铖; 黄丽辉; 王雪瑶; 王现蕾; 赵雪雷; 程晓华

doi:10.13201/j.issn.1001-1781.2018.23.008

GJB2基因致聋突变儿童听力进展的随访研究

- 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(北京, 100730);
- 2 首都医科大学附属北京儿童医院耳鼻咽喉头颈外科
基金项目:
国家自然科学基金面上项目 (No:81870730)

国家重点研发计划项目 (No:2018YFC1002200, 2018YFC1002204)

北京市自然科学基金面上项目 (No:7172052)

详细信息

通讯作者: 黄丽辉, E-mail:huangpub@126.com

中图分类号: R764.43

收稿日期: 2018-09-20

Follow-up research on hearing progression of GJB2 mutation associated hearing loss in children

- 1 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, Ministry of Education, Beijing, 100730, China;
- 2 Department of Otorhinolaryngology Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University

More Information

Corresponding author: HUANG Lihui, E-mail: huangpub@126.com

Received Date: 20 September 2018

摘要

摘要: 目的: 分析 GJB2基因致聋突变儿童的听力随访结果。方法: 选取在我院儿童听力诊断中心就诊的 GJB2基因纯合或复合杂合突变的0~5岁儿童43例。均接受畸变产物耳声发射、声导抗、听性脑干反应、听性稳态反应和小儿行为测听等听力学检测,至少有2次听力诊断结果;随访时间至少3个月。根据基因型将患儿分为2组:截断/截断突变组(T/T组)23例(53.49%)、非截断/截断突变组(NT/T组)20例(46.51%)。对2组首末诊听力损失程度及进展率进行比较,并对听力进展耳的进展值和进展速度进行分析。结果: 本组患儿 GJB2基因c.235delC突变占比最高(56.98%),其次为c.109G>A(22.09%)。首诊听力损失程度,T/T组以重度为主(60.87%),NT/T组以轻度为主(50.00%);末诊听力损失程度,T/T组以重度为主(50.00%),NT/T组以轻度为主(42.50%),T/T组均较NT/T组重,差异均有统计学意义。随访发现,听力进展3例(4耳),其中双耳进展1例,单耳进展2例,总进展率为4.65%(4/86),T/T组进展率为2.17%(1/46),NT/T组进展率为7.50%(3/40),2组差异无统计学意义。4耳的平均进展值为11.25 dB HL,平均进展速度为0.5 dB HL/月。结论: GJB2基因致聋突变儿童听力损失程度可为轻度至极重度,T/T组较NT/T组重,2组均可能出现听力进展,提示此类儿童在生长发育过程中可能出现听力进展,应定期随访。
- GJB2基因 /
- 突变 /
- 聋
Abstract: Objective: To analyze the auditory follow-up alteration of GJB2-associated hearing loss children. Method: Forty three children aged 0-5 years with homozygous or heterozygous mutations of GJB2 gene attach to the Children's Hearing Diagnostic Center of our hospital were enrolled in this study.Distortion product otoacoustic emissions and acoustic immittance, auditory brainstem response, auditory steady-state response, acoustic impedance, pediatric behavior audiometry and other audiological tests were performed. The subjects had at least two audiology diagnosis results at different time; follow-up time was at least three months. According to the genotype, the subjects were divided into two groups:23 cases(53.49%) in the truncating mutation/truncating mutation(T/T) group and 20 cases(46.51%) in the nontruncating mutation/truncating mutation(NT/T) group. Hearing levels of the first and last diagnoses and progression rate were compared between the two groups, and the progression value and progression rate were analyzed. Result: The average follow-up time was(19.63±16.76) months. The frequency of c. 235delC(56.98%) in GJB2 gene mutations sites was highest in this group, followed by c. 109G>A(22.09%). The first diagnosis of hearing loss, T/T group was mainly severe(60.87%), NT/T group was mainly mild(50.00%); The degree of final hearing loss in the T/T group was mainly severe(50.00%) while the NT/T group was mainly mild(42.50%), and the T/T group was both heavier than the NT/T group. The difference was both statistically significant. Follow-up research on 43 cases(86 ears) showed that 3 cases(4 ears) developed hearing progression, 1 of them were bilateral progression, two was unilateral progression; the overall rate of progression was 4.65%(4/86), and the rate of progression in the T/T group was 2.17%(1/46) while the NT/T group was 7.50%(3/40). There was no significant difference between the two groups. The average progression of 4 ears was 11.25 dB HL, the average progression speed was 0.5 dB HL/month.Conclusion: This study showed that the degree of hearing loss of GJB2-associated hearing loss children was mild to profound, and those with truncating mutations/truncating mutations were severer than those with nontruncating mutations/truncating mutations. Hearing progression was seen in both groups, it is suggested that children with GJB2 gene mutations hearing progression may occur during growth and development, therefore, they should be followed up regularly.
- GJB2 gene /
- mutation /
- deafness

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