Buianova Anastasiia A, Bazanova Marina V, Belova Vera A, Ilyina Galit A, Samitova Alina F, Shmitko Anna O, Balakina Anna V, Pavlova Anna S, Suchalko Oleg N, Korostin Dmitriy O, Machalov Anton S, Daikhes Nikolai A, Rebrikov Denis V
The Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 117513 Moscow, Russia.
FSBI 'The National Medical Research Center for Otorhinolaryngology of the Federal Medico-Biological Agency of Russia', 123182 Moscow, Russia.
Int J Mol Sci. 2024 Nov 22;25(23):12554. doi: 10.3390/ijms252312554.
Auditory neuropathy spectrum disorder (ANSD) is often missed by standard hearing tests, accounting for up to 10% of hearing impairments (HI) and commonly linked to variants in 23 genes. We assessed 122 children with HI, including 102 with sensorineural hearing loss (SNHL) and 20 with ANSD. SNHL patients were genotyped for common variants using qPCR, while ANSD patients underwent whole exome sequencing, with variants analyzed across 249 genes. Homozygous variants were found in 54.9% of SNHL patients. In 60% of ANSD patients, variants were detected in (25%), , , and genes, including eight novel variants. Transient evoked otoacoustic emissions testing revealed differences at 4000 Hz ( = 0.0084) between the ANSD and SNHL groups. The auditory steady-state response (ASSR) test showed significant differences at 500 Hz ( = 2.69 × 10) and 1000 Hz ( = 0.0255) compared to pure-tone audiometry (PTA) in ANSD patients. Our questionnaire shows that the parents of children with SNHL often report an improved quality of life with hearing aids or cochlear implants, while parents of children with ANSD frequently experience uncertainty about outcomes ( = 0.0026), leading to lower satisfaction.
听觉神经病谱系障碍（ANSD）常被标准听力测试漏诊，占听力障碍（HI）的比例高达10%，且通常与23个基因的变异有关。我们评估了122名听力障碍儿童，其中包括102名感音神经性听力损失（SNHL）儿童和20名ANSD儿童。SNHL患者使用定量聚合酶链反应（qPCR）对常见变异进行基因分型，而ANSD患者则接受全外显子组测序，并对249个基因的变异进行分析。在54.9%的SNHL患者中发现了纯合变异。在60%的ANSD患者中，在（25%）、、、和基因中检测到变异，包括8个新变异。瞬态诱发耳声发射测试显示，ANSD组和SNHL组在4000Hz时存在差异（=0.0084）。听觉稳态反应（ASSR）测试显示，与纯音听力测定（PTA）相比，ANSD患者在500Hz（=2.69×10）和1000Hz（=0.0255）时存在显著差异。我们的调查问卷显示，SNHL儿童的父母经常报告使用助听器或人工耳蜗后生活质量有所改善，而ANSD儿童的父母则经常对结果感到不确定（=0.0026），导致满意度较低。
