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HEARRING group genetic marker study: genetic background of CI patients.

Author information

Affiliations

  • 1. Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
      Authors
    • Nishio SY 1
    (1 author)
  • 2. Department of Otorhinolaryngology, La Paz University Hospital, Madrid, Spain.
      Authors
    • Gavilán J 2
    (1 author)
  • 3. Department of Otorhinolaryngology Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
      Authors
    • Van de Heyning P 3
    • Mertens G 3
    (2 authors)
  • 4. Cochlear Implant Department, Karolinska University Hospital, Stockholm, Sweden.
      Authors
    • Karltorp E 4
    (1 author)
  • 5. Department of Teleaudiology and Screening, World Hearing Center of the Institute of Physiology and Pathology of Hearing, Kajetany, Poland.
      Authors
    • Skarżyński H 5
    (1 author)
    • Show all (12)

ORCIDs linked to this article

Acta Oto-laryngologica, 22 Oct 2024, 144(10):542-551
https://doi.org/10.1080/00016489.2024.2416082 PMID: 39434647 

Abstract 

Background

While cochlear implantation (CI) and electric acoustic stimulation (EAS) have a positive outcome in most cases, their effectiveness varies depending on the etiology of the hearing loss. Among the various etiologies, genetic factors are the leading cause of hearing loss and may impact CI and EAS outcomes.

Aims/objectives

To reveal the genetic background of the hearing loss in CI/EAS patients in each ethnic population, we undertook a multi-center study involving the genetic testing of hearing loss in CI/EAS patients from 10 centers.

Material and methods

Saliva samples and clinical information for the patients and their family members were obtained and next-generation sequencing analysis using a panel carrying 63 deafness genes was then performed.

Results

Genetic testing successfully identified the causative gene variants in 54.5% (48/88) of patients with pre-lingual onset hearing loss (onset under 6 years) and in 12% (12/95) of those with late-onset hearing loss (onset at 6 years or more).

Conclusions and significance

We clearly indicated that genetic factors are the most common cause of hearing loss regardless of ethnic background. Saliva-based genetic testing is a useful tool for multi-center studies seeking to clarify the genetic causes of hearing loss in CI or EAS patients between countries separated by distance.

Full text links 

Read article at publisher's site: https://doi.org/10.1080/00016489.2024.2416082

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Funding 

Funders who supported this work.

Health and Labor Sciences Research (3)

Japan Agency for Medical Research and Development (4)