Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients
Kristen L. Seligman, A. Eliot Shearer, Kathy Frees, Carla Nishimura, Diana L. Kolbe, Camille C. Dunn, Marlan R. Hansen, Bruce J. Gantz, Richard J. Smith
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 GJB2 (20, 16%), TMPRSS3 (13, 10%), SLC26A4 (10, 8%), MYO7A (9, 7%), and MT‐RNR1 (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.