Han Lei, Chen Liheng, Yu Sha, Chen Yuxin, Jiang Luoying, Han Shuang, Zhong Jiake, Guo Luo, Li Huawei, Shu Yilai
ENT Institute and Department of Otorhinolaryngology，Eye & ENT Hospital，Fudan University，Shanghai，200031，China.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2025 Apr;39(4):379-385. doi: 10.13201/j.issn.2096-7993.2025.04.016.
Sensorineural hearing loss is one of the most common sensory disorders. In recent years, auditory neuropathy spectrum disorders caused by mutations in the gene have garnered significant attention worldwide, marking it as the first deafness gene with breakthroughs in gene therapy. Most patients with gene mutations present with stable, congenital, or prelingual onset of hearing loss, which can range from severe to profound and even complete hearing loss. However, a minority of patients may exhibit mild to moderate progressive hearing loss or temperature-sensitive hearing loss. This review further explores the genotype-phenotype relationship of the gene based on reported cases in China and abroad. Additionally, we analyze the characteristics of the natural history of gene mutations within the Chinese population. This study aims to provide a reference for the clinical diagnosis, evaluation, and treatment of hearing loss associated with gene mutations.
感音神经性听力损失是最常见的感觉障碍之一。近年来，由该基因突变引起的听觉神经病谱系障碍在全球范围内受到了广泛关注，使其成为基因治疗取得突破的首个耳聋基因。大多数该基因突变患者表现为稳定的、先天性的或语前起病的听力损失，程度可从重度到极重度甚至全聋。然而，少数患者可能表现为轻度至中度进行性听力损失或温度敏感性听力损失。本综述基于国内外报道的病例进一步探讨该基因的基因型 - 表型关系。此外，我们分析了中国人群中该基因突变的自然史特征。本研究旨在为与该基因突变相关的听力损失的临床诊断、评估和治疗提供参考。
