Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age
Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age
复制标题
GJB2 中的双等位基因 p.V37I 变异与随年龄增长而增加的听力损失发生率相关
DOI：
10.1016/j.gim.2021.12.007
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发表时间：
2022-04-05
影响因子：
8.8
通讯作者：
Wu, Hao
中科院分区：
文献类型：
--
作者：
Chen, Ying;Wang, Zhili;Wu, Hao
目的：本研究旨在定量评估 GJB2 双等位基因 p.V37I 变异个体的听力损失发生率与年龄的关系。方法：对上海 30,122 名年龄在 0 至 97 岁之间的个体进行双等位基因 p.V37I 变异人群筛查。双等位基因 p.V37I 个体和对照的听力阈值通过点击听觉脑干反应或纯音听力测定来确定。结果：在 0.528% (159/30,122) 的受试者中检测到双等位基因 p.V37I。在双等位基因 p.V37I 新生儿中，43.91% (18/41) 通过了基于失真产物耳声发射的新生儿听力筛查，或者听力阈值低于正常听力水平 20 分贝。大龄新生儿听力阈值升高，7～15岁、20～40岁、40～60岁、60～85岁年龄段中度以上听力损失发生率分别增加9.52%、23.08%、59.38%和80.00%。他们的听力以平均每年0.40分贝的听力水平恶化；男性更容易受到影响，并且在较高的声音频率下优先发生恶化。结论：双等位基因 p.V37I 变异与稳步进行性听力损失相关，并且随着生命过程的发生率不断增加。大多数双等位基因 p.V37I 个体在成年后可能会出现严重的听力损失，并且可以通过广泛的基因筛查受益于早期诊断和干预。 (C) 2021 作者。由爱思唯尔公司代表美国医学遗传学和基因组学学院出版。
Purpose: This study aimed to quantitatively assess the incidence of hearing loss in relation to age in individuals with biallelic p.V37I variant in GJB2.Methods: Population screening of the biallelic p.V37I variant was performed in 30,122 individuals aged between 0 and 97 years in Shanghai. Hearing thresholds of the biallelic p.V37I individuals and the controls were determined by click auditory brainstem response or pure tone audiometry.Results: Biallelic p.V37I was detected in 0.528% (159/30,122) of the subjects. Of the biallelic p.V37I newborns, 43.91% (18/41) passed their distortion-product otoacoustic emissions-based newborn hearing screening or had hearing thresholds lower than 20 decible above normal hearing level. The older newborns had elevated hearing thresholds, with increasing incidence of 9.52%, 23.08%, 59.38%, and 80.00% for moderate or higher grade of hearing loss in age groups of 7 to 15 years, 20 to 40 years, 40 to 60 years, and 60 to 85 years, respectively. Their hearing deteriorated at a rate of 0.40 dB hearing level per year on average; males were more susceptible, and deterioration occurred preferentially at higher sound frequencies.Conclusion: The biallelic p.V37I variant is associated with steadily progressive hearing loss with increasing incidence over the course of life. Most of the biallelic p.V37I individuals may develop significant hearing loss in adulthood and, can benefit from early diagnosis and intervention through wide-spread genetic screening. (C) 2021 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.