Deafness and Vestibular Dysfunction (Doberman Pinscher Type), Variant 2
Affected Genes: MYO7A
Inheritance: Autosomal Recessive
Variant(canFam6):
chr21:21390658: C>T
Breed: Doberman Pinscher
General Information: Deafness and Vestibular Dysfunction, Variant 2 (DINGS2) in Doberman Pinschers is a congenital condition marked by significant sensory nervous system impairments. Affected puppies show signs within the first few weeks as they begin to move independently, exhibiting symptoms such as head tilting, circling, falling, and abnormal head movements. Nystagmus, or rapid eye movement, becomes apparent once the puppy's eyes are fully open. Although some puppies may show improvement in their righting reflex as they age, they typically suffer from profound hearing loss, which can be confirmed through a brainstem auditory evoked response (BAER) test. The symptoms are generally non-progressive but persist throughout the dog's life, with management strategies focusing on symptom alleviation rather than cure.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Deafness and Vestibular Dysfunction, Variant 2 (DINGS2) in Doberman Pinschers targets mutations in the MYO7A gene, essential for confirming a dog’s carrier status of this specific form of the disorder. DINGS2 is an autosomal recessive condition, meaning a dog must inherit two copies of the defective gene—one from each parent—to exhibit symptoms of the disease. Carriers, possessing only one copy of the mutated gene, do not show clinical signs but can pass the mutation to their offspring. Breeding practices should be carefully managed with genetic testing to prevent the breeding of carriers, which has a 25% chance of producing affected offspring and a 50% chance of producing another carrier. Avoiding the mating of carriers is crucial to reducing the incidence of this debilitating condition in future generations. Dogs that test clear of the mutation do not increase the risk of propagating the condition.
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.
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(2):142-148.