Deafness and Vestibular Dysfunction (Doberman Pinscher Type)

Other Names: Congenital hearing and vestibular disorder, DINGS, DVD
Affected Genes: PTPRQ
Inheritance: Autosomal Recessive
Mutation: chr15:22989894-22989895: 1 bp insertion (ins A)

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Common Symptoms

Deafness and Vestibular Dysfunction (Doberman Pinscher Type) (DVD) is an inherited neurologic disease affecting Doberman pinschers. The Doberman pinscher breed is one of the rare breeds with deafness associated with signs of vestibular disease. Signs of deafness present by 3 weeks of age. These dogs also show other neurological abnormalities such as head tilt, abnormal eye movements, circling and uncoordinated use of the limbs.


Breed-Specific Information for the Doberman Pinscher

The Mutation of the PTPRQ gene associated with Deafness and Vestibular Dysfunction (Doberman Pinscher Type) has been identified in the Doberman pinschers. Though the exact frequency in the overall Doberman pinscher population is unknown, approximately 3% out of 202 Dobermans tested were carriers of the mutation.


Testing Tips

Genetic testing of the PTPRQ gene in Doberman pinschers will reliably determine whether a dog is a genetic Carrier of Deafness and Vestibular Dysfunction (Doberman Pinscher Type) (DVD). DVD is inherited in an Autosomal Recessive manner in dogs. This means that dogs must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the PTPRQ gene mutation. Reliable genetic testing is important for determining breeding practices. To eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding known carriers to each other is not recommended. Doberman pinschers that do not carry the mutation have no increased risk of having affected pups. Because there are other mutations associated with DVD in Dobermans, a normal result in PTPRQ does not exclude DVD in a pedigree.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


References

  • Guevar J, Olby NJ, Meurs KM, Yost O, Friedenberg SG. Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene. J Vet Intern Med. 2018;32:665–669. https://doi. Org/10.1111/jvim.15060 [PubMed: 29460419]
  • Webb AA, Ruhe AL, Neff MW. A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed. Can J Vet Res. 2019,83:142 – 148. [PubMed: 31097876]