Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients.

Seligman, Kristen L; Shearer, A Eliot; Frees, Kathy; Nishimura, Carla; Kolbe, Diana; Dunn, Camille; Hansen, Marlan R; Gantz, Bruce J et al. · Otolaryngol Head Neck Surg · 2022

case_series · Level IV

Where this comes from

Abstract

Understanding genetic causes of hearing loss can determine the pattern and course of a patient's hearing loss and may also predict outcomes after cochlear implantation. Our goal in this study was to evaluate genetic causes of hearing loss in a large cohort of adults and children with cochlear implants. We performed comprehensive genetic testing on all patients undergoing cochlear implantation. Of the 459 patients included in the study, 128 (28%) had positive genetic testing. In total, 44 genes were identified as causative. The top 5 genes implicated were <i>GJB2</i> (20, 16%), <i>TMPRSS3</i> (13, 10%), <i>SLC26A4</i> (10, 8%), <i>MYO7A</i> (9, 7%), and <i>MT-RNR1</i> (7, 5%). Pediatric patients had a higher diagnostic rate. This study lays the groundwork for future studies evaluating the relationship between genetic variation and cochlear implant performance.

Medical subject headings