A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology

Overview

Journal Otol Neurotol

Specialties Neurology
Otorhinolaryngology

Date 2016 Jan 13

PMID 26756145

Citations 28

Authors

Maiko Miyagawa

Shin-Ya Nishio

Shin-Ichi Usami

Affiliations

Soon will be listed here.

Abstract

Objective: Cochlear implantation is the most important treatment currently available for profound sensorineural hearing loss. The aim of this study was to investigate the etiology of hearing loss in patients with cochlear implantation, and to compare outcomes.

Methods: Japanese hearing loss patients who received cochlear implants (CIs) or electric acoustic stimulation (EAS) in Shinshu University hospital (n = 173, prelingual onset: 92, postlingual onset: 81) participated in this study. Invader assay followed by the targeted exon-sequencing of 63 deafness genes using Massively parallel DNA sequencing (MPS) was applied. For prelingual patients, additional imaging examination, cCMV screening, and pediatric examination were performed for precise diagnosis.

Results: Genetic screening successfully identified the causative mutation in 60% of patients with prelingual onset hearing loss and in 36% of those with postlingual hearing loss. Differences in the kinds of genes identified were observed between the two groups. Although there were marked variations in the outcome of cochlear implantation, patients with specific deafness gene mutations showed relatively good results.

Conclusion: The present study showed genetic etiology is a major cause of hearing loss in CI/EAS patients. Patients possessing mutations in a number of deafness genes known to be expressed within inner ear have achieved satisfactory auditory performance, suggesting that the identification of the genetic background facilitates the prediction of post-CI performance. MPS is a powerful tool for the identification of causative deafness genes in patients receiving cochlear implantation. Therefore, determination of the involved region inside/outside of the cochlea by identification of the responsible gene is essential.

Citing Articles

Impact of Cochlear Implant on the Quality of Life in Post Lingual Deafened Adult Population in Tertiary Care Centre.

Aqib M, Sinha M, Manogaran R, Hameed N, K N, Chidambaram K Indian J Otolaryngol Head Neck Surg. 2025; 77(1):75-81.

PMID: 40071015 PMC: 11890912. DOI: 10.1007/s12070-024-05110-y.

A sensorineural hearing loss harboring novel compound heterozygous variant in the gene: A case report.

Rhim J, Kim D, Han J, Park J Heliyon. 2024; 10(17):e36717.

PMID: 39296067 PMC: 11408809. DOI: 10.1016/j.heliyon.2024.e36717.

Application of Genetic Information to Cochlear Implantation in Clinical Practice.

Wu C J Audiol Otol. 2024; 28(2):93-99.

PMID: 38695054 PMC: 11065544. DOI: 10.7874/jao.2024.00080.

Considering gene therapy to protect from X-linked deafness DFNX2 and associated neurodevelopmental disorders.

Defourny J Ibrain. 2023; 8(4):431-441.

PMID: 37786584 PMC: 10529175. DOI: 10.1002/ibra.12068.

Can an individual with low frequency hearing in the candidate ear benefit from a cochlear implant even if they have normal hearing in the other ear?.

Lorens A, Skarzynski P, Obrycka A, Skarzynski H Eur Arch Otorhinolaryngol. 2023; 280(11):4895-4902.

PMID: 37221309 PMC: 10562342. DOI: 10.1007/s00405-023-08011-y.

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