Professional article
Open access

Génétique des troubles auditifs chez l'enfant

Published inRevue médicale suisse, vol. 15, no. 665, p. 1740-1745
Publication date2019

The majority of early hearing disorders are of genetic origin. In view of the genetic heterogeneity, high-throughput sequencing analysis of a panel of genes involved in hearing loss is the most effective and economical approach, providing a diagnostic yield of around 40 % today. The determination of a molecular diagnosis makes it possible to: i) adapt the audiological care; ii) to search for possible somatic problems associated with so-called syndromic hearing loss; (iii) to avoid unnecessary additional examinations in isolated hearing loss; (iv) to establish accurate genetic counseling for relatives, or even to provide early diagnosis; and (v) to lay the foundation for potential future molecular hearing loss therapies in selected cases.

  • Child
  • Deafness/diagnosis/genetics/therapy
  • Early Diagnosis
  • Genetic Counseling
  • Hearing Loss/diagnosis/genetics/therapy
  • Humans
  • Molecular Targeted Therapy
  • Syndrome
Citation (ISO format)
GIACOBINO, Ariane et al. Génétique des troubles auditifs chez l’enfant. In: Revue médicale suisse, 2019, vol. 15, n° 665, p. 1740–1745.
Main files (1)
Article (Published version)
ISSN of the journal1660-9379

Technical informations

Creation06/10/2020 11:17:00 AM
First validation06/10/2020 11:17:00 AM
Update time03/15/2023 10:11:40 PM
Status update03/15/2023 10:11:40 PM
Last indexation01/17/2024 10:13:48 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack