Present at birth
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Clinical signs include permanent deafness in one or both ears along with vestibular dysfunction. Clinical signs of vestibular dysfunction may include head tilt, circling, ataxia (lack of coordination), and nystagmus (repetitive, uncontrolled movements of the eyes). The severity of vestibular dysfunction can vary between individuals and tends to be non-progressive.
Hand signals and light signaling can be effective ways to train a dog who is deaf. Keep in mind that deaf dogs can startle easily so should be approached within their line of sight or gently roused from sleep by a light touch on their bedding. For vestibular dysfunction, measures should be taken to improve safety in the house such as blocking off staircases or areas with uneven flooring. Padding sharp furniture corners is helpful. When outdoors, if not in a fenced yard, the dog should be on leash at all times.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. A carrier dog with one copy of the Deafness and Vestibular Dysfunction (DINGS1) mutation can be safely bred with a clear dog with no copies of the Deafness and Vestibular Dysfunction (DINGS1) mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the DINGS1 mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the DINGS1 (PTPRQ gene) variant could develop due to a different genetic or clinical cause.
| Gene | PTPRQ |
|---|---|
| Variant | Insertion |
| Chromosome | 15 |
| Coordinate Start | 22,989,894 |
| Coordinate End | 22,989,895 |
All coordinates reference CanFam3.1
Guevar, J., Olby, N. J., Meurs, K. M., Yost, O., & Friedenberg, S. G. (2018). Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene. Journal of Veterinary Internal Medicine, 32(2), 665–669. View the article
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