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. 2022 Apr;166(4):734-737.
doi: 10.1177/01945998211021308. Epub 2021 Jun 22.

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

Kristen L Seligman  1 , A Eliot Shearer  1   2 , Kathy Frees  1 , Carla Nishimura  1 , Diana Kolbe  1 , Camille Dunn  1 , Marlan R Hansen  1 , Bruce J Gantz  1 , Richard J H Smith  1   3   4
Affiliations

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

Kristen L Seligman et al. Otolaryngol Head Neck Surg. 2022 Apr.

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.

Keywords: cochlear implants; genetic epidemiology; genetic hearing loss.

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Conflict of interest statement

Disclosures

Competing interests: Marlan R. Hansen is a cofounder and chief medical officer of IotaMotion, Inc. Richard J. H. Smith directs the Molecular Otolaryngology and Renal Research Laboratories, which offers comprehensive genetic testing for hearing loss.

Figures

Figure 1.
Figure 1.
Distribution of mutations among (A) all patients with positive genetic testing (n = 128), (B) children with positive testing (n = 48), (C) adults with positive testing (n = 80), and (D) hybrid cochlear implant patients with positive testing (n = 26).
See this image and copyright information in PMC

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