Surdité bilateral et dysfonctionnement vestibulaire

Gène : MYO7A

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

Système médical : Auditoire

Races : American Staffordshire Terrier/Amstaff, Dobermann Pinscher, Labrador Retriever, Mudi, Pinscher nain, Rottweiler

Références :

Lien OMIA : [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]