Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review

Acta Otolaryngol. 2017 Jul;137(7):730-742. doi: 10.1080/00016489.2016.1276303. Epub 2017 Feb 24.


Conclusion: Most of the cases with gene mutations of intra-cochlear etiology showed relatively good CI outcomes. To progress toward more solid evidence-based CI intervention, a greater number of reports including CI outcomes for specific gene mutations are desired.

Background: Cochlear implantation (CI) is the most important and effective treatment for patients with profound sensorineural hearing loss. However, the outcomes of CI vary among patients. One of the reasons of this heterogeneous outcome for cochlear implantation is thought to be the heterogeneous nature of hearing loss. Indeed, genetic factors, the most common etiology in severe-to-profound hearing loss, might be one of the key determinants of outcomes for CI and electric acoustic stimulation (EAS). Patients with genetic causes involving an 'intra-cochlear' etiology show good CI/EAS outcomes.

Review: This review article aimed to summarize the reports on CI/EAS outcomes in patients with special genetic causes as well as to assist in future clinical decision-making. Most of the cases were suspected of an intra-cochlear etiology, such as those with GJB2, SLC26A4, and OTOF mutations, which showed relatively good CI outcomes. However, there have only been a limited number of reports on patients with other gene mutations.

Keywords: ACTG1; CDH23; Cochlear implantation; GJB2; OTOF; SLC26A4; TMPRSS3; Usher syndrome; Waardenburg syndrome; electric acoustic stimulation.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Actins / genetics
  • Cadherin Related Proteins
  • Cadherins / genetics
  • Cochlear Implantation*
  • Connexin 26
  • Connexins / genetics
  • Genes, Mitochondrial
  • Hearing Loss / genetics*
  • Hearing Loss / surgery*
  • Humans
  • Membrane Proteins / genetics
  • Membrane Transport Proteins / genetics
  • Neoplasm Proteins / genetics
  • Serine Endopeptidases / genetics
  • Sulfate Transporters
  • Usher Syndromes / surgery
  • Waardenburg Syndrome / surgery


  • ACTG1 protein, human
  • Actins
  • CDH23 protein, human
  • Cadherin Related Proteins
  • Cadherins
  • Connexins
  • GJB2 protein, human
  • Membrane Proteins
  • Membrane Transport Proteins
  • Neoplasm Proteins
  • OTOF protein, human
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Connexin 26
  • Serine Endopeptidases
  • TMPRSS3 protein, human