Lalayants M R, Mironovich O L, Bliznets E A, Markova T G, Polyakov A V, Tavartkiladze G A
National Research Center for Audiology and Hearing Rehabilitation, Moscow, Russia.
Academician N.P. Bochkov Medical and Genetic Research Center, Moscow, Russia.
Vestn Otorinolaringol. 2020;85(2):21-25. doi: 10.17116/otorino20208502121.
Otoferlin () gene mutations are the most common cause of hereditary ANSD according to investigations in several countries.
Of this study was to estimate the prevalence of mutations in Russian children with ANSD and evaluate audiological and clinical features of -related ANSD.
28 children with bilateral ANSDwere enrolled in the investigation. Two step genetic testing was performed: first step - gene testing to exclude -related hearing loss; second step - NGS-based sequencing to explore another 35 hearing loss genes (including ).
mutations, including 6 new variants, were found in 5 children with ANSD (18%). All 5 children had no risk factors for hearing loss and passed hearing screening. OAE and cochlear microphonics were present till the last testing at the age of 4-5 years. ABR were not detectable. The ASSR were measurable bilaterally at all frequencies in all cases, but they did not correlate with behavioral thresholds that revealed severe hearing loss. Hearing thresholds were stable during follow up period. 3 children underwent cochlear implantation. After cochlear implantation auditory nerve action potentials to electric stimulation were detected within normal range.
Genetic testing of children with ANSD and first of all testing enables to reveal hearing loss etiology and provide the optimal rehabilitation approach, including cochlear implantation, as early as possible.
根据多个国家的调查， otoferlin（）基因突变是遗传性听觉神经病谱系障碍（ANSD）最常见的病因。
本研究旨在评估俄罗斯ANSD患儿中 基因突变的患病率，并评估与 相关的ANSD的听力学和临床特征。
28例双侧ANSD患儿纳入研究。进行了两步基因检测：第一步—— 基因检测以排除与 相关的听力损失；第二步——基于二代测序（NGS）探索另外35个听力损失相关基因（包括 ）。
在5例ANSD患儿（18%）中发现了 基因突变，包括6个新变异。所有5例患儿均无听力损失危险因素且通过听力筛查。耳声发射（OAE）和耳蜗微音电位在4至5岁的最后一次检测时仍存在。听性脑干反应（ABR）未引出。所有病例中，多频稳态反应（ASSR）在所有频率双侧均可测量，但与显示重度听力损失的行为阈值不相关。随访期间听力阈值稳定。3例患儿接受了人工耳蜗植入。人工耳蜗植入后，电刺激诱发的听神经动作电位在正常范围内。
对ANSD患儿进行基因检测，首先是 检测，能够揭示听力损失病因，并尽早提供包括人工耳蜗植入在内的最佳康复方法。
