Genetic hearing loss due to variants in GJB2 and POU3F4. Presentation of a case

Project: Research/Creation Project

Project Details


Approximately 40% of hearing losses are congenital in origin.
Early identification and accurate diagnosis of the characteristics, severity, and cause of hearing loss allows defining the appropriate therapeutic options and influences the prognosis of children. This paper describes a case of a child with congenital hearing loss in whom variants in the GJB2 and PO3F4 genes are reported and who is a cochlear implant user with absence of auditory response, in order to discuss in a multidisciplinary way the management of the case.


Pérdida auditiva, implante coclear, enfermedad coclear, genética, niños
Short titleHipoacusia ligada a X reporte de caso
Effective start/end date8/3/2212/31/22

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This project contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

Main Funding Source

  • Installed Capacity (Academic Unit)


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