Peer-reviewed veterinary case report
A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed.
- Journal:
- Canadian journal of veterinary research = Revue canadienne de recherche veterinaire
- Year:
- 2019
- Authors:
- Webb, Aubrey A et al.
- Affiliation:
- Department of Clinical Neurosciences · United States
- Species:
- dog
Abstract
Bilateral deafness with concurrent vestibular dysfunction was first reported in the Doberman pinscher in 1980. Here, we identify a coding mutation in the MYO7A gene that is perfectly associated with the disorder. The lack of visual deficits in affected dogs suggests that, like rodents but unlike humans, MYO7A is not required for retinal function. DNA testing of the mutation will enable dog breeders to manage the incidence of this genetic defect.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/31097876/