Wang Zhili, Jiang Mengda, Wu Hao, Li Yun, Chen Ying
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 Key Laboratory of Translational Medicine on Ear and Nose Diseases (14DZ2260300) Shanghai China.
Laryngoscope Investig Otolaryngol. 2022 May 27;7(3):870-876. doi: 10.1002/lio2.829. eCollection 2022 Jun.
The aim of this study was to identify genetic etiology in two unrelated Chinese probands with progressive sensorineural hearing loss.
Two unrelated Chinese families were recruited. Genetic etiology was identified by targeted next-generation sequencing (NGS) and verified by Sanger sequencing. Hearing evaluations included pure tone audiometry, auditory brainstem response to clicks, and otoscopic examination. Medical history and computerized tomography scan of temporal bone were also collected. In addition, linear regression was used to summarize all of the reported cases and estimate the progression of hearing loss.
A 28-year-old man with variant c.68delC had progressive, moderately severe hearing loss and a suspicious history of renal impairment. His hearing result was 63.75 dB HL. The other proband was the youngest patient with MPZL2-related hearing loss reported so far in the literature (genotype: c.220C>T homozygote). Her hearing result by click-ABR was 25 dB nHL at 3 months of age, and deteriorated to 40 dB nHL at 15 months. Behavioral audiometry identified a hearing loss of 26.25 dB HL. In summarizing all of the reported cases, using linear regression, MPZL2-related hearing loss may deteriorate by 0.59 dB HL per year, and different MPZL2 variants may lead to different rates of progression.
In this study, we first identified two unrelated patients with -related hearing loss in Chinese population, and a novel variant c.68delC. Our results expanded the mutation spectrum of deafness genes. Further studies are required to clarify the genotype-phenotype correlation and the progression of -related hearing loss.
本研究旨在确定两名患有进行性感音神经性听力损失的无血缘关系的中国先证者的遗传病因。
招募了两个无血缘关系的中国家庭。通过靶向二代测序（NGS）确定遗传病因，并通过桑格测序进行验证。听力评估包括纯音听力测定、短声听觉脑干反应和耳镜检查。还收集了病史和颞骨计算机断层扫描结果。此外，使用线性回归总结所有报告的病例并估计听力损失的进展情况。
一名28岁男性，携带c.68delC变异，患有进行性中度重度听力损失，并有可疑的肾功能损害病史。他的听力结果为63.75 dB HL。另一名先证者是迄今为止文献报道的最年轻的与MPZL2相关的听力损失患者（基因型：c.220C>T纯合子）。她3个月大时短声ABR听力结果为25 dB nHL，15个月时恶化为40 dB nHL。行为测听确定听力损失为26.25 dB HL。在总结所有报告的病例时，使用线性回归分析，与MPZL2相关的听力损失可能每年恶化0.59 dB HL，不同的MPZL2变异可能导致不同的进展速度。
在本研究中，我们首次在中国人群中确定了两名患有与[基因名称]相关听力损失的无血缘关系患者，以及一个新的变异c.68delC。我们的结果扩展了耳聋基因的突变谱。需要进一步研究以阐明基因型-表型相关性以及与[基因名称]相关听力损失的进展情况。
