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

• DOI: 10.1002/ohn.1200
• Publication Date: 2025-03-11T15:41:43Z
• Authors: Yueying Wang; Shubin Fang; Xiaoqing Cen; Yue Liang; Anhai Chen; Lusha Huang; Juan Wang; Guanxia Xiong; Kaitian Chen

AbstractObjectiveThis 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 DesignA retrospective case review.SettingA tertiary referral center.MethodsSequencing 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.ResultsSixteen 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.ConclusionPatients 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.