Peer-reviewed veterinary case report
Eya4-deficient mice are a model for heritable otitis media.
- Journal:
- The Journal of clinical investigation
- Year:
- 2008
- Authors:
- Depreux, Frederic F S et al.
- Affiliation:
- Department of Genetics · United States
- Species:
- rodent
Abstract
Otitis media is an extremely common pediatric inflammation of the middle ear that often causes pain and diminishes hearing. Vulnerability to otitis media is due to eustachian tube dysfunction as well as other poorly understood factors, including genetic susceptibility. As EYA4 mutations cause sensorineural hearing loss in humans, we produced and characterized Eya4-deficient (Eya4(-/-)) mice, which had severe hearing deficits. In addition, all Eya4(-/-) mice developed otitis media with effusion. Anatomic studies revealed abnormal middle ear cavity and eustachian tube dysmorphology; thus, Eya4 regulation is critical for the development and function of these structures. We suggest that some human otitis media susceptibility reflects underlying genetic predisposition in genes like EYA4 that regulate middle ear and eustachian tube anatomy.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/18219393/