Deafness and Vestibular Dysfunction (Doberman Pinscher Type), Variant 2

Affected Genes: MYO7A
Inheritance: Autosomal Recessive
Mutation: chr21:21678081 (canFam4): C/T
Breed(s): Doberman Pinscher

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Common Symptoms

Bilateral deafness and vestibular dysfunction is an inherited neurological disease affecting dogs. This condition affects the development of the sensory nervous system. Affected puppies present with clinical signs the first few weeks of life as they start moving on their own. Signs include abnormal movement of the head, falling, head tilt, and circling. Once the puppy’s eyes are fully open, abnormal rapid eye movement, called Nystagmus, may be observed. Loss of the righting reflex may be evident early but can improve as the dog ages. A veterinarian may note hearing loss using a brainstem auditory evoked response (BAER) test. Treatment is focused on reducing the severity of signs with limited effect.

Testing Tips

Genetic testing of the MY07A gene will reliably determine whether a Doberman Pinscher is a genetic Carrier of Deafness and Vestibular Dysfunction (Doberman Pinscher Type), Variant 2. This test examines the genome for one of two known genetic mutations associated with this disease. The other gene Mutation associated with Deafness and Vestibular Dysfunction (Doberman Pinscher Type), Variant 1 is PTPRQ and is less common in the Doberman population. Dogs inheriting a single copy of either mutation are considered carriers of the disease and will not develop clinical signs. Dogs which inherit two copies of the same mutation (one from each parent) are expected to be affected with Deafness and Vestibular Dysfunction.

Deafness and Vestibular Dysfunction (Doberman Pinscher Type), Variant 2 is inherited in an Autosomal Recessive manner in dogs meaning that they 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 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. Dogs that do not carry the mutation have no increased risk of having affected pups.

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 Apr;83(2):142-148. [PubMed: 31097876]