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Bilateral Deafness MYO7A Gene (Dobermann Type)

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Test Overview:

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.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

MYO7A

Variant Detected:

chr21:21678081 (canFam4): C/T

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Research Citation(s):

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]

Associated Breed(s):

Dobermann, Mixed Breed,

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