GJB2基因p.V37I纯合及复合杂合突变者婴儿期的听力表型分析
Clinical hearing phenotypes analysis of GJB2 gene p.V37I homozygote and compound heterozygote mutation in infants
阮宇 1文铖 1程晓华 1张伟 1谢锦各 1李悦 1邓琳 1黄丽辉1
作者信息
- 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)
- 折叠
摘要
目的:分析GJB2基因p.V37I纯合及复合杂合突变者的听力表型,旨在为遗传咨询提供参考.方法:研究对象为2023年1月-2024年3月在北京同仁医院耳鼻咽喉头颈外科确诊为GJB2基因p.V37I纯合及复合杂合突变患儿53例,患儿均接受了新生儿听力筛查、23项耳聋基因筛查及听力学检查(听性脑干反应、声导抗、畸变产物耳声发射、听性稳态反应).对比分析纯合突变组(30例)与复合杂合突变组(23例)的新生儿听力筛查及各项听力学诊断结果.结果:53例中,总体新生儿听力筛查未通过率为64.15％(34/53),纯合突变组未通过率80.00％(24/30)高于复合杂合突变组43.48％(10/23),2组差异有统计学意义(P＜0.05).3例p.V37I复合杂合突变者新生儿听力筛查通过,诊断为单侧轻度听力损失.53例平均确诊月龄为(3.77±1.40)个月,确诊听力损失25例(47.17％,25/53),其中单侧13例,双侧12例;听力正常28例(52.83％,28/53).确诊听力损失比例,纯合突变组(56.67％,17/30)与复合杂合突变组(34.78％,8/23)差异无统计学意义(P＞0.05).听力损失25例(37耳)中,轻度、中度及极重度听力损失占比分别为70.27％(26/37)、27.03％(10/37)、2.70％(1/37).纯合突变组与复合杂合突变组听力损失程度均以轻度为主,占比分别为70.37％(19/27)及70.00％(7/10),2组差异无统计学意义(P＞0.05).结论:GJB2基因p.V37I纯合及复合杂合突变者婴儿期以轻度听力损失为主,纯合及复合杂合突变者出现听力损失的概率及听力损失程度无明显差异.对目前听力诊断正常的p.V37I纯合及复合杂合突变者,需要临床持续随访.
Abstract
Objective:To analyze the hearing phenotypes of p.V37I homozygote and compound heterozygote mutation in GJ B2 gene,and to provide basis for genetic counseling.Methods:Fifty-three subjects with p.V37I homozygote and compound heterozygote mutation were recruited at Department of Otolaryngology Head and Neck Surgery,Beijing Tongren Hospital from January 2023 to March 2024.All subjects received universal newborn hearing screening(UNHS),23-site chip neonatal deafness genetic screening and audiological tests,including ABR,acoustic immittance,DPOAE,ASSR.The results of newborn hearing screening and hearing diagnosis were compared between homozygous mutation group of 30 cases and compound heterozygous mutation group of 23 ca-ses.Results:In 53 cases,the overall refer rate of UNHS was 64.15％(34/53),the refer rate of homozygous mu-tation group was 80.00％(24/30),which was higher than that of compound heterozygous mutation group(43.48％,10/23),the difference between the two groups was statistically significant(P＜0.05).Three subjects with p.V37I compound heterozygous mutation had passed UNHS and diagnosed with unilateral mild hearing loss.The average age of diagnosis of 53 cases was(3.77±1.40)months,25 cases with hearing loss accounted for 47.17％,including 13 cases with unilateral,12 cases with bilateral,28 cases with normal hearing accounted for 52.83％.There was no significant difference between homozygous mutation group(56.67％,17/30)and com-pound heterozygous mutation group(34.78％,8/23)in the proportion of confirmed hearing loss(P＞0.05).A-mong 37 ears of 25 patients with hearing loss,the proportion of mild,moderate and profound hearing loss were 70.27％(26/37),27.03％(10/37)and 2.70％(1/37),respectively.The hearing loss degree of the homozygous mutation group and the compound heterozygous mutation group were mainly mild,accounting for 70.37％(19/27)and 70.00％(7/10)respectively.There was no significant difference between the two groups in the distribu-tion of hearing loss degree(P＞0.05).Conclusion:The probability of hearing loss was 47.17％in infants of GJB2 gene p.V37I homozygote and compound heterozygote mutation,mainly mild hearing loss.There was no differ-ence in the probability of hearing loss and the distribution of hearing loss degree between the two groups.Patients with p.V37I homozygous and compound heterozygous mutation currently diagnosed as normal hearing need con-tinuous clinical follow-up.
关键词
GJB2基因/p.V37I/听力表型/听力损失Key words
GJB2 gene/p.V37I/hearing phenotypes/hearing loss引用本文复制引用
出版年
2024
NETL
NSTL
万方数据