Etiology of Genetic Hearing Loss


  • María Visitación Bartolomé Pascual Departamento de Oftalmología y Otorrinolaringología. Facultad de Psicología. Universidad Complutense de Madrid. Madrid, España
  • Elena Melones Sánchez Logopedia. Universidad Complutense de Madrid. Madrid



hearing loss, genetics


Currently, the high incidence of non-syndromic hearing loss in the Spanish population is allowing progress in the identification of the genes involved, as well as the possible auditory and non-auditory consequences depending on the genetic nature of the pathology. Speech therapy intervention is essential in the treatment of this type of hearing loss. The objective of this review is to gather knowledge about the most numerous non-syndromic hearing loss in Spain, the effect caused by each specific mutation and the consequences they cause, so that a medical-surgical treatment can be devised. The most common mutations in the Spanish population are those originated in the GJB2, GJB6 and OTOF genes; each of them presents different phenotypes. Those responsible for the irregularities are the connexins in the cells of the ear, proteins that form intercellular gap junctions for the exchange of small molecules and ions. The diversities for each hearing loss depend on the place occupied by the cells that have their modified connexins. The treatment of this type of hearing loss is especially important for the alterations caused by certain connexins. One of the examples is the integrity of the auditory nerve that will give options for the cochlear implant. Analyzing these particularities together with other factors such as the age of onset or the degree of loss, an attempt will be made to develop a treatment with particularities for each patient.


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2015-02-01 — Updated on 2021-09-15


How to Cite

Bartolomé Pascual, M. V., & Melones Sánchez, E. (2021). Etiology of Genetic Hearing Loss. Auditio, 4(1), 21–31. (Original work published February 1, 2015)



e-journal of audiology (archive before 2021 only in Spanish)

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