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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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.