Li Yiming, Wang Hongyang, Li Danyang, Wang Qiuju
Department of Audiology and Vestibular Medicine，College of Otolaryngology Head and Neck Surgery Department of Otolaryngology，the Sixth Medical Centre，Chinese PLA General Hospital，Medical School of Chinese PLA，Beijing，100048，China.
National Clinical Medical Center for Otolaryngology.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan;38(1):23-29. doi: 10.13201/j.issn.2096-7993.2024.01.004.
To elucidate the correlation between the gene and auditory neuropathy, aiming to provide valuable insights for genetic counseling of affected individuals and their families. The general information, audiological data（including pure tone audiometry, distorted otoacoustic emission, auditory brainstem response, electrocochlography）, imaging data and genetic test data of 117 auditory neuropathy patients, and the patients with gene mutation were screened out for the correlation analysis of auditory neuropathy. Total of 16 patients were found to have gene mutations, all of which were pathogenic or likely pathogenic.was Among them, one patient had compound heterozygous variants [c. 427C>T][c. 358_360del], exhibiting total deafness. One was [c. 299_300delAT][c. 35_36insG]compound heterozygous variants, the audiological findings were severe hearing loss.The remaining 14 patients with gene variants exhibited typical auditory neuropathy. In this study, the relationship between gene and auditory neuropathy was preliminarily analyzed,and explained the possible pathogenic mechanism of gene variants that may be related to auditory neuropathy.
为阐明该基因与听觉神经病之间的相关性，旨在为受影响个体及其家庭的遗传咨询提供有价值的见解。对117例听觉神经病患者的一般信息、听力学数据（包括纯音听力测定、畸变产物耳声发射、听性脑干反应、耳蜗电图）、影像学数据和基因检测数据进行分析，并筛选出携带该基因突变的患者进行听觉神经病的相关性分析。共发现16例患者存在该基因突变，均为致病性或可能致病性突变。其中，1例患者具有复合杂合变异体[c. 427C>T][c. 358_360del]，表现为全聋。1例为[c. 299_300delAT][c. 35_36insG]复合杂合变异体，听力学表现为重度听力损失。其余14例携带该基因变异的患者表现为典型的听觉神经病。本研究初步分析了该基因与听觉神经病之间的关系，并解释了可能与听觉神经病相关的该基因变异的致病机制。
