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Professional article
Open access
French

Génétique des troubles auditifs chez l'enfant

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

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.

Keywords
  • 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.
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Article (Published version)
accessLevelPublic
Identifiers
ISSN of the journal1660-9379
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