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Updated: Jul 3, 2025
Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
Published on: January 25, 2016
Diagnostic yield of genetic testing in adults with sensorineural hearing loss
Sara Reda Del Barrio1, Joaquín de Vergas Gutiérrez1, Juan Francisco Quesada-Espinosa2
1Department of Otolaryngology-Head and Neck Surgery, Hospital Universitario 12 de Octubre, Madrid, Spain.
Introduction:
The contribution of genetic causes to sensorineural hearing loss (SNHL) in adults is less clear than in children, and genetic diagnosis is still not standardized in adults. In this study we present the genetic results obtained in a cohort of adult patients with SNHL.
Materials And Methods:
We included 63 adults with SNHL that received genetic testing between 2019 and 2022. Whole exome sequencing was performed and variants in genes related to hearing loss (virtual panel with 244 genes) were prioritised and analysed.
Results:
24% (15/63) of patients were genetically diagnosed: 87% (13/15) of patients had non-syndromic hearing loss and 13% (2/15) had syndromic hearing loss. We identified pathogenic and likely pathogenic variants in 11 different genes.
Conclusions:
Our results show that a significant proportion of adults with SNHL have a genetic origin, and that implementation of genetic testing improves diagnostic accuracy and allows personalized management of these patients.
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