Quick Summary
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Phenotype: Deafness in one or both ears often accompanied by a loss of balance, head “bobble” and tilt.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, DINGS1 = unilateral deafness with vestibular dysfunction, DINGS2 = bilateral deafness with vestibular dysfunction
Breeds appropriate for testing: Doberman Pinscher
Explanation of Results:
- Dogs with N/N genotype do not have the Doberman Pinscher deafness variant.
- Dogs with N/DINGS1 genotype are carriers of Doberman Pinscher deafness but are unaffected. If two carriers are mated, 25% of the offspring in the litter are expected to be affected and another 50% of the offspring are expected to be carriers.
- Dogs with N/DINGS2 genotype are carriers of Doberman Pinscher bilateral deafness but are unaffected. If two carriers are mated, 25% of the offspring in the litter are expected to be affected and another 50% of the offspring are expected to be carriers.
- Dogs with DINGS1/DINGS1 genotype will display deafness in at least one ear and may exhibit balance/coordination issues.
- Dogs with DINGS2/DINGS2 genotype will display deafness in both ears and may exhibit balance/coordination issues.
Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)
Doberman Pinscher Health Panel
$130 per animal
Sample Collection
Dog DNA tests are carried out using cells brushed from your dog's cheeks and gums. The preferred cytology brushes are sent to you by mail, or you may provide your own brushes. For accepted alternative brushes, click here
We recommend waiting until puppies are at least three weeks old before testing.
Step-By-Step:
- Make sure the dog has not had anything to eat or drink for at least 1 hour prior to collecting sample.
- When swabbing puppies, isolate each puppy from the mother, littermates and any shared toys for 1 hour prior to swabbing. Puppies should not have nursed or eaten for 1 hour prior to collecting sample.
- If collecting samples from more than one dog, make sure to sample one dog at a time and wash your hands before swabbing another dog.
- Label brush sleeve with name or ID of dog to be sampled.
- Open brush sleeve by arrow and remove one brush by its handle.
- Place bristle head between the dog’s gums and cheek and press lightly on the outside of the cheek while rubbing or rotating the brush back and forth for 15 seconds.
- Wave the brush in the air for 20 seconds to air dry.
- Insert brush back into sleeve.
- Repeat steps 5 - 8 for each unused brush in sleeve on a fresh area of cheek and gums. Make sure to use and return all brushes sent by the VGL. In most cases, it will be 3 brushes per dog. If using interdental gum brushes, please note that the VGL requires 4 brushes per dog and only moderate or wide interdental gum brushes are accepted.
- Do not seal brushes in sleeve.
- Place all samples in an envelope and return to the address provided.
ATTENTION:
- Do not collect saliva/drool – the key to obtaining a good sample is getting cheek cells on the swab
- Do not rub swab on the dog’s tongue or teeth – this will result in poor quality sample
- Do not collect a sample from a puppy that has recently nursed – the mother’s genetic material can rub off on the puppy’s mouth and contaminate the sample
Deafness with vestibular dysfunction, or DINGS, is a neurological disorder resulting from improper development of the inner ear. This includes both the cochlea (the part of the inner ear that produces nerve impulses in response to sound vibrations) as well as the vestibular labyrinth (the elaborate set of interconnected canals of the inner ear assisting with balance, among other functions). In affected dogs, improper development of the cochlea prevents proper transmission and amplification of sounds from the ear to the brain. The vestibular labyrinth, which is directly connected to the cochlea, provides information regarding motion, spatial orientation, and head position to the brain. An affected dog may have vertigo, dizziness, balance issues as well as spatial orientation issues. Symptoms can present as mild to severe, but are early onset and can be progressive. A BAER hearing test from your veterinarian can provide more information as to the degree of deafness and vestibular impact.
A frameshift variant in the protein tyrosine phosphatase, receptor type Q (PTPRQ: c.5909insA ,p.N1970Lfster24) gene was determined to be associated with unilateral deafness and vestibular response in an affected pup. PTPRQ has been hypothesized to promote long-term survival of the hair cells as well as maturation of the hair bundles within the cochlea. 2.97% of Dobermans were identified as carriers of this allele.
A second variant associated with bilateral deafness and vestibular response was identified in a different gene, specifically MYO7A (c.3719G>A, p.R1240Q). This missense variant is predicted to change a highly conserved amino acid, likely impacting its function in sensory neuroepithelial cells. Of the 309 known human MYO7A mutations, all are associated with some degree of hearing impairment, and 261 have associated balance issues. The presence of this allele was identified in 10% of Dobermans.
In Doberman Pinschers, both DINGS variants are inherited in an autosomal recessive fashion. For each variant, two copies must be present for the disease to manifest, and both sexes are affected equally.
Testing for these variants can assist veterinarians with diagnosis of DINGS and helps breeders identify carriers among breeding stock to select appropriate mates that will reduce the risk of producing affected offspring. To avoid the possibility of producing affected puppies, matings between known carriers for either variant is not recommended.
