Open AccessGenetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients
Author(s) -
Seligman Kristen L.,
Shearer A. Eliot,
Frees Kathy,
Nishimura Carla,
Kolbe Diana,
Dunn Camille,
Hansen Marlan R.,
Gantz Bruce J.,
Smith Richard J. H.
Publication year - 2022
Publication title -
otolaryngology–head and neck surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.232
H-Index - 121
eISSN - 1097-6817
pISSN - 0194-5998
DOI - 10.1177/01945998211021308
Subject(s) - hearing loss , audiology , cochlear implant , cohort , cochlear implantation , genetic testing , congenital hearing loss , medicine , cohort study , implant , surgery , sensorineural hearing loss
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.