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

Author:

Seligman Kristen L.1,Shearer A. Eliot12,Frees Kathy1,Nishimura Carla1,Kolbe Diana1,Dunn Camille1,Hansen Marlan R.1,Gantz Bruce J.1,Smith Richard J. H.134

Affiliation:

1. Department of Otolaryngology–Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA

2. Boston Children’s Hospital, Department of Otolaryngology & Communication Enhancement, Harvard Medical School, Boston, Massachusetts, USA

3. Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA

4. Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA

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.

Funder

national institute on deafness and other communication disorders

Publisher

SAGE Publications

Subject

Otorhinolaryngology,Surgery

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