Deafness, bilateral, and vestibular dysfunction

Gene: MYO7A

Mutation: Substitution, MYO7A gene: c.3719G>A, p.(R1240Q)

Medical system: Auditory

Races: American Staffordshire Terrier/Amstaff, Doberman Pinscher, Labrador Retriever, Miniature Pinscher, Mudi, Rottweiler

References:

OMIA link: [2148-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Webb AA, Ruhe AL, Neff MW, et al. (2019) A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed. Can J Vet Res 83:142-148. [pubmed/31097876]