Deafness and Vestibular Dysfunction (Doberman Pinscher Type), Variant 1

General Information: Deafness and Vestibular Dysfunction (DINGS1), Variant 1, is a serious neurologic condition affecting Doberman Pinschers, characterized by congenital deafness detectable as early as 3 weeks of age. Alongside hearing impairment, affected dogs exhibit signs of vestibular dysfunction including a noticeable head tilt, nystagmus (abnormal eye movements), circling, and lack of coordination in limb movements. These symptoms result from abnormalities in the vestibular system, which is crucial for maintaining balance. The combination of auditory and vestibular challenges significantly impacts the quality of life for affected dogs, often requiring specialized care and management to navigate their environment safely.

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 of the PTPRQ gene is pivotal in identifying carriers of Deafness and Vestibular Dysfunction (DINGS1), Variant 1 in Doberman Pinschers, which is transmitted via an autosomal recessive pattern. Dogs must inherit two mutated copies of the PTPRQ gene—one from each parent—to exhibit symptoms of the disease. Carrier dogs, possessing only one copy, do not show symptoms but can produce affected offspring if mated with another carrier. Each mating between carriers has a 25% chance of producing affected offspring and a 50% chance of producing another carrier. To prevent the birth of affected puppies and aim to eliminate this deleterious mutation from the breed, it is recommended not to breed carriers with one another. Responsible breeding practices, underscored by reliable genetic testing, are essential for maintaining the health of future generations and reducing the prevalence of this debilitating condition within the breed.