{Reference Type}: English Abstract
{Title}: [Distribution characteristics and correlation analysis of GJB2 variation in patients with auditory neuropathy].
{Author}: Li Y;Wang H;Li D;Wang Q;
{Journal}: Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
{Volume}: 38
{Issue}: 1
{Year}: 2024 Jan
暂无{DOI}: 10.13201/j.issn.2096-7993.2024.01.004
{Abstract}: Objective:To elucidate the correlation between the GJB2 gene and auditory neuropathy, aiming to provide valuable insights for genetic counseling of affected individuals and their families. Methods: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 GJB2 gene mutation were screened out for the correlation analysis of auditory neuropathy. Results:Total of 16 patients were found to have GJB2 gene mutations, all of which were pathogenic or likely pathogenic.was Among them, one patient had compound heterozygous variants GJB2[c. 427C>T][c. 358_360del], exhibiting total deafness. One was GJB2[c. 299_300delAT][c. 35_36insG]compound heterozygous variants, the audiological findings were severe hearing loss.The remaining 14 patients with GJB2 gene variants exhibited typical auditory neuropathy. Conclusion:In this study, the relationship between GJB2 gene and auditory neuropathy was preliminarily analyzed,and explained the possible pathogenic mechanism of GJB2 gene variants that may be related to auditory neuropathy.<BR>目的：探究GJB2基因与听神经病之间的关系，为此类患者及家庭的遗传咨询提供参考。 方法：对117例听神经病患者的基本信息、听力学资料（包括纯音测听、畸变耳声发射、听性脑干反应、耳蜗电图）、影像学资料、遗传学检测等数据进行收集，并筛选出携带GJB2基因变异的患者对其进行听神经病相关分析。 结果：共计16例患者检出GJB2基因变异，变异位点致病性均为致病的或可能致病的，其中1例为GJB2[c.427C>T][c.358_360del]复合杂合变异，听力学表现为全聋，1例为GJB2[c.299_300delAT][c.35_36insG]复合杂合变异，听力学表现为重度听力损失，其余14例携带GJB2基因变异患者听力学表型均为典型听神经病。 结论：本研究初步分析了GJB2基因与听神经病的相关性，并阐述了GJB2基因变异可能与听神经病表型相关的致病机制。.