Characteristics and Prognosis of Patients With Non-Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations.

IF 2.6 3区医学 Q1 OTORHINOLARYNGOLOGY

Otolaryngology- Head and Neck Surgery Pub Date : 2025-03-07 DOI:10.1002/ohn.1200

Yueying Wang, Shubin Fang, Xiaoqing Cen, Yue Liang, Anhai Chen, Lusha Huang, Juan Wang, Guanxia Xiong, Kaitian Chen

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引用次数: 0

Abstract

Objective: This study aims to investigate the characteristics of hearing loss associated with MYO15A mutations and to analyze the longitudinal prognosis over a 4-year period using different treatment modalities, including cochlear implants (CIs), hearing aids (HAs), and conservative management.

Study design: A retrospective case review.

Setting: A tertiary referral center.

Methods: Sequencing was performed to recruit patients with potentially pathogenic MYO15A mutation-induced hearing loss. Audiological data, radiological imaging, and assessment of hearing and speech performance before and after different treatments were analyzed in combination with patients' genotypes.

Results: Sixteen patients with MYO15A mutation-induced deafness from 14 unrelated pedigrees were enrolled, carrying 5 previously unreported mutations: c.3660_3666delinsAA (p.Glu1221fs), c.4635delG (p.Val1545fs), c.6664A>G (p.Met2222Val), c.8215delG (p.Ala2739fs), and c.8897delG (p.Gly2966fs). Inner ear malformations were observed in 3 patients. CI recipients exhibited significant improvements in hearing and speech abilities 1-year post-implantation, while individuals using HAs showed a gradual improvement trend over a 4-year period. Notably, even those with bilateral cochlear aperture atresia achieved satisfactory hearing and speech outcomes following early CIs.

Conclusion: Patients with MYO15A mutations who underwent CIs generally demonstrated earlier improvements in hearing and speech development compared to those using HAs. Early genetic detection and timely implementation of assistive acoustic stimulation are recommended for optimal outcomes.

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目的：本研究旨在探讨与MYO15A突变相关的听力损失的特点，并分析采用不同治疗方式（包括人工耳蜗（CIs）、助听器（HAs）和保守治疗）的4年纵向预后。研究设计：回顾性病例回顾。环境：三级转诊中心。方法：对潜在致病性MYO15A突变引起的听力损失患者进行测序。结合患者的基因型，分析不同治疗前后的听力学资料、放射学影像、听力和语言表现评估。结果：16例MYO15A突变性耳聋患者来自14个不相关的家系，携带5种以前未报道的突变：c.3660_3666delinsAA （p.Glu1221fs）、c.4635delG （p.Val1545fs）、c.6664A>G （p.Met2222Val）、c.8215delG （p.Ala2739fs）和c.8897delG （p.Gly2966fs）。3例出现内耳畸形。CI接受者在植入后1年的听力和语言能力有显著改善，而使用HAs的个体在4年的时间里表现出逐渐改善的趋势。值得注意的是，即使是双侧耳蜗孔闭锁的患者，在早期ci后也能获得满意的听力和语言结果。结论：接受CIs治疗的MYO15A突变患者在听力和语言发育方面比接受HAs治疗的患者更早得到改善。建议早期基因检测和及时实施辅助声刺激以获得最佳结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Otolaryngology- Head and Neck Surgery 医学-耳鼻喉科学

CiteScore

6.70

自引率

2.90%

发文量

250

审稿时长

2-4 weeks

期刊介绍： Otolaryngology–Head and Neck Surgery (OTO-HNS) is the official peer-reviewed publication of the American Academy of Otolaryngology–Head and Neck Surgery Foundation. The mission of Otolaryngology–Head and Neck Surgery is to publish contemporary, ethical, clinically relevant information in otolaryngology, head and neck surgery (ear, nose, throat, head, and neck disorders) that can be used by otolaryngologists, clinicians, scientists, and specialists to improve patient care and public health.