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

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.