Wang Qin, Hu Jian, Bian Panpan, Chen Chi, Wang Yanli, Cheng Shihong, Guo Yufen, Xu Baicheng
Department of Otolaryngology-Head & Neck Surgery, Lanzhou University Second Hospital, Lanzhou, China.
Department of Otorhinolaryngology Head and Neck Surgery, Xijing Hospital, Airforce Military Medical University, Xi'an, Shaanxi Province, China.
Acta Otolaryngol. 2023 Feb;143(2):156-162. doi: 10.1080/00016489.2023.2174592. Epub 2023 Feb 13.
gene mutations related to hearing loss patients can obtain good hearing and speech rehabilitation effects after cochlear implantation (CI).
To explore the long-term rehabilitative outcomes of CI in patients with different mutation groups.
Clinical data of 71 patients with gene mutations who received CI in the Second Hospital of Lanzhou University from 2012 to 2015 were retrospectively reviewed. According to the genetic test results, use One-way ANOVA analysis to compare the differences in auditory results, categories of auditory performance (CAP) and speech intelligibility rating (SIR) index questionnaire scores and speech recognition rates among different groups in 4-5 years after CI.
Compared with other genotypes of , the patients with homozygous mutation of c.919-2A > G in had better hearing aid threshold at 500 Hz and better recognition rates of Yangyang words than other monoallelic mutation groups after CI ( < .05).
The most common hot spot mutation of gene is c.919-2A > G. The patients with homozygous mutation of c.919-2A > G in gene had partly better hearing and speech rehabilitation than other monoallelic mutation groups after CI.
与听力损失患者相关的基因突变患者在人工耳蜗植入（CI）后可获得良好的听力和言语康复效果。
探讨不同突变组患者人工耳蜗植入的长期康复效果。
回顾性分析2012年至2015年在兰州大学第二医院接受人工耳蜗植入的71例基因突变患者的临床资料。根据基因检测结果，采用单因素方差分析比较人工耳蜗植入后4-5年不同组间听觉结果、听觉表现类别（CAP）和言语可懂度评分（SIR）指数问卷得分及言语识别率的差异。
与其他基因型相比，人工耳蜗植入后，携带c.919-2A＞G纯合突变的患者在500Hz时的助听阈值更好，扬扬词汇识别率高于其他单等位基因突变组（P＜0.05）。
该基因最常见的热点突变是c.919-2A＞G。携带c.919-2A＞G纯合突变的患者人工耳蜗植入后听力和言语康复部分优于其他单等位基因突变组。
