| Literature DB >> 34154485 |
Kristen L Seligman1, A Eliot Shearer1,2, Kathy Frees1, Carla Nishimura1, Diana Kolbe1, Camille Dunn1, Marlan R Hansen1, Bruce J Gantz1, Richard J H Smith1,3,4.
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.Entities:
Keywords: cochlear implants; genetic epidemiology; genetic hearing loss
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Year: 2021 PMID： 34154485 PMCID： PMC9128025 DOI： 10.1177/01945998211021308
Source DB: PubMed Journal: Otolaryngol Head Neck Surg ISSN： 0194-5998 Impact factor: 5.591