Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases (14DZ2260300), Shanghai, China.
Department of Neonatal, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Genet Med. 2022 Apr;24(4):915-923. doi: 10.1016/j.gim.2021.12.007. Epub 2022 Jan 10.
This study aimed to quantitatively assess the incidence of hearing loss in relation to age in individuals with biallelic p.V37I variant in GJB2.
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.
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.
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.
本研究旨在定量评估 GJB2 中双等位 p.V37I 变异个体与年龄相关的听力损失发生率。
在上海，对 30122 名 0 至 97 岁的个体进行双等位 p.V37I 变异的人群筛查。通过click 听觉脑干反应或纯音测听来确定双等位 p.V37I 个体和对照组的听力阈值。
在 30122 名受试者中检测到双等位 p.V37I 变异 0.528%（159/30122）。在双等位 p.V37I 新生儿中，43.91%（18/41）通过了基于畸变产物耳声发射的新生儿听力筛查，或听力阈值低于正常听力水平 20 分贝以上。年龄较大的新生儿听力阈值升高，7 至 15 岁、20 至 40 岁、40 至 60 岁和 60 至 85 岁组中度或更高等级听力损失的发生率分别为 9.52%、23.08%、59.38%和 80.00%。他们的听力平均每年恶化 0.40 分贝听力水平；男性更易受影响，听力恶化优先发生在更高的声音频率。
双等位 p.V37I 变异与随着生命过程中发生率的增加而逐渐进展的听力损失相关。大多数双等位 p.V37I 个体可能在成年后会出现显著的听力损失，并可以通过广泛的遗传筛查，从早期诊断和干预中获益。
