Frontiers in audiology and otology最新文献

英文中文

Responsiveness of the electrically stimulated cochlear nerve in patients with a missense variant in ACTG1: Preliminary Results. ACTG1错义变异患者电刺激耳蜗神经的反应性：初步结果。

Frontiers in audiology and otology

Pub Date : 2023-01-01 Epub Date: 2023-07-07 DOI: 10.3389/fauot.2023.1213323

Yi Yuan, Denise Yan, Jeffrey Skidmore, Prem Chapagain, Xuezhong Liu, Shuman He

This preliminary study identified a missense variant in ACTG1 (NM_001614.5) in a family with autosomal dominant non-syndromic hearing loss (ADNSHL). The responsiveness of the electrically-stimulated cochlear nerve (CN) in two implanted participants with this missense change was also evaluated and reported. Genetic testing was done using a custom capture panel (MiamiOtoGenes) and whole exome sequencing. The responsiveness of the electrically-stimulated CN was evaluated in two members of this family (G1 and G4) using the electrically evoked compound action potential (eCAP). eCAP results from these two participants were compared with those measured three implanted patient populations: children with cochlear nerve deficiency, children with idiopathic hearing loss and normal-sized cochlear nerves, and postligually deafened adults. Sequencing of ACTG1 identified a missense c.737A>T (p. Gln246Leu) variant in ACTG1 (NM_001614.5) which is most likely the genetic cause of ADNSHL in this family. eCAP results measured in these two participants showed substantial variations. The results indicated the missense c.737A>T (p. Gln246Leu) variant in ACTG1 (NM_001614.5) co-segregated with hearing loss in this family. The responsiveness of the electrically-stimulated CN can vary among patients with the same genetic variants, which suggests the importance of evaluating the functional status of the CN for individual CI patients.

这项初步研究在一个常染色体显性非综合征性听力损失（ADNSHL）家族中发现了 ACTG1（NM_001614.5）的一个错义变异。此外，还评估并报告了两名植入这种错义变异的患者的电刺激耳蜗神经（CN）的反应能力。基因检测是通过定制的捕获面板（MiamiOtoGenes）和全外显子测序完成的。使用电诱发复合动作电位（eCAP）评估了该家族两名成员（G1 和 G4）的电刺激 CN 的反应性。将这两名参与者的 eCAP 结果与三个植入患者群体的测量结果进行了比较：耳蜗神经缺失儿童、特发性听力损失和耳蜗神经正常儿童以及耳聋后成人。对 ACTG1 进行测序后发现，ACTG1（NM_001614.5）中存在一个错义 c.737A>T（p. Gln246Leu）变异，这很可能是该家族 ADNSHL 的遗传病因。结果表明，ACTG1（NM_001614.5）中的c.737A>T（p. Gln246Leu）错义变异与该家族的听力损失存在共性遗传。在具有相同基因变异的患者中，电刺激 CN 的反应能力会有所不同，这表明对个别 CI 患者的 CN 功能状态进行评估非常重要。

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