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Genetic Health Testing for Doberman Pinschers

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Embark for Breeders offers eight breed-specific genetic health tests for the Doberman Pinscher among the 250+ genetic health conditions for which Embark tests. Breeders can easily share breed-specific DNA test results on parents or puppies with the one-page DNA Health Summary report with Embark test results.  

Genetic health testing is an integral part of a responsible dog breeding program. When using genetic health testing, breeders need to educate themselves about concepts such as modes of inheritance, penetrance, prevalence, and phenotype for a specific variant in their breed to apply test results. Breeders also need to know which variants are causing health concerns in their breed and which health conditions currently have no genetic test available. This handy search function by breed or health condition can show breeders which DNA tests Embark provides. 

Embark DNA tests for the Doberman Pinscher include the following conditions. The health condition percentages based on clear, carrier, and at-risk status presented on common, rare, and very rare genetic risk factors are based on a subset of dogs within the Embark database and do not necessarily represent all dogs of this breed. While we are not able to provide specific population numbers at this time, we believe the data provided here to be sufficient to inform on current trends within the North American population of Doberman Pinschers

Common genetic health risk factors <95% clear rate

These are the most common genetic conditions based on Embark data, ranked from most to least prevalent in the Doberman Pinscher, with less than 95% of dogs testing clear. 

Dilated Cardiomyopathy, DCM1 (PDK4, Doberman Pinscher Variant 1)

DCM is the most common acquired heart disease in adult dogs. The heart has two heavily muscled ventricles that pump blood away from the heart. This disease causes progressive weakening of the ventricles by reducing the muscle mass, which causes the ventricles to dilate. Dilated ventricles do not contract and circulate oxygenated blood well, which eventually leads to heart failure. The gene is PDK4. The mode of inheritance is dominant. 

  • Based on Embark-tested Doberman Pinschers that have opted into research, here’s a snapshot of the breed today: 65% of dogs tested clear, 4.3% tested at-risk, homozygote dominant, and 30.6% tested at-risk, heterozygote for Dilated Cardiomyopathy, DCM1 (PDK4, Doberman Pinscher Variant 1).

Citations: Meurs et al 2012 Wess et al 2010 Summerfield et al 2012

Von Willebrand Disease Type I, Type I vWD (VWF)

Von Willebrand Disease (vWD) is a type of coagulopathy, a disorder of blood clotting. vWD is characterized into three types based on clinical severity, serum levels of vWF, and vWF multimer composition. Dogs with Type I vWD have low vWF levels, normal multimer composition, and variable clinical signs. This blood disease has a recessive mode of inheritance.  

  • Based on Embark-tested Doberman Pinschers that have opted into research, here’s a snapshot of the breed today: 56.4% of dogs tested clear, 35.7% tested carriers, and 7.7% tested at-risk for Von Willebrand Disease Type I, Type I vWD (VWF).

Citations: Brooks et al 2001

Dilated Cardiomyopathy, DCM2 (TTN, Doberman Pinscher Variant 2)

DCM is the most common acquired heart disease of adult dogs. The heart has two heavily muscled ventricles that pump blood away from the heart. This disease causes progressive weakening of the ventricles by reducing the muscle mass, which causes the ventricles to dilate. Dilated ventricles do not contract and circulate oxygenated blood well, which eventually leads to heart failure. The gene is TTN. The mode of inheritance is dominant.

  • Based on Embark-tested Doberman Pinschers that have opted into research, here’s a snapshot of the breed today: 51.6% of dogs tested clear, 11.9% tested at-risk, homozygote dominant, and 36.4% tested at-risk, heterozygote dominant, for Dilated Cardiomyopathy, DCM2 (TTN, Doberman Pinscher Variant 2).

Citations: Meurs et al 2019

Rare genetic health risk factors 95-99% clear rate

These are rare genetic conditions in the Doberman Pinscher, with 95% to 99% of dogs testing clear. 

Deafness and Vestibular Syndrome of Dobermans, DVDob, DINGS (MYO7A)

This disease affects the hearing and balance mechanisms of the inner ear. The gene is MYO7A. The mode of inheritance is recessive. 

  • Based on Embark-tested Doberman Pinschers that have opted into research, here’s a snapshot of the breed today: 96.2% of dogs tested clear, 3.7% tested carriers, and <0.1% tested at-risk for Deafness and Vestibular Syndrome of Dobermans, DVDob, DINGS (MYO7A).

Citations: Webb et al 2018

 

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Very rare genetic health risk factors >99% clear rate

The following genetic conditions have a greater than 99% clear rate and are considered very rare genetic diseases in the Doberman Pinscher

Degenerative Myelopathy, DM (SOD1A)

The dog equivalent of Amyotrophic Lateral Sclerosis, or Lou Gehrig’s disease, DM is a progressive degenerative disorder of the spinal cord. Because the nerves that control the hind limbs are the first to degenerate, the most common clinical signs are back muscle wasting and gait abnormalities. The gene is SOD1A*, and the mode of inheritance is recessive. 

* SOD1A vs SOD1B

Please note: While we test for the SOD1A variant, we do not test for the SOD1B (Bernese Mountain Dog type) variant at this time. Degenerative Myelopathy genotype results apply only to SOD1A.

Citations:  Awano et al 2009, Shelton et al 2012, Capuccio et al 2014 

Ehlers Danlos (ADAMTS2, Doberman Pinscher Variant)

Ehlers Danlos is a disorder of collagen production leading to stretchy, hyper-elastic skin and loose joints. The gene is ADAMTS2. The mode of inheritance is recessive. 

Citations: Jaffey et al 2019

Narcolepsy (HCRTR2 Intron 4, Doberman Pinscher Variant)

A neurologic condition characterized by daytime sleepiness and fragmented sleep cycles, affected dogs also exhibit episodes of cataplexy, a sudden complete loss of muscle tone in response to strong positive emotions. All known genetic mutations for canine narcolepsy lie in the Hypocretin receptor 2 (HCRTR2) gene. Hypocretin is a neurotransmitter involved in the regulation of appetite, arousal, and wakefulness. The gene is HCRTR2. The mode of inheritance is recessive. 

Citations: Lin et al 1999

Unilateral Deafness and Vestibular Syndrome (PTPRQ Exon 39, Doberman Pinscher)

Hearing loss can be categorized into three groups: age-related, congenital (hearing loss present at birth), and early-onset (neonatally or during puppy or early adulthood). Causes of hearing loss are diverse, with a complex interaction of genetic and environmental components correlated with specific genes. This disease affects the hearing and balance mechanisms of the inner ear. The gene is PTPRQ Exon 39. The mode of inheritance is recessive. 

Citations: Guevar et al 2018

With eight known conditions in the Doberman Pinscher, this is evidence that genetic disorders are of concern within the breed, and other conditions are likely to be identified in the future. By DNA testing your Doberman Pinschers with Embark, you can help accelerate more novel discoveries to help your breed and all dogs. 

Canine Health and Breed Resources 

Doberman Pinscher Club of America 

Orthopedic Foundation for Animals (OFA)

OFA Canine Health Information Center (CHIC)

OFA-CHIC Health Testing Requirements for the Doberman Pinscher 

Mandatory

Hip Dysplasia 

Autoimmune Thyroiditis

ACVO Eye Exam 

Cardiac Evaluation

von Willebrand’s Disease

Working Aptitude

Remember, genetic health testing is not a diagnosis of a disease. Please consult your veterinarian for any health issues with your dog. To start your DNA testing journey, explore Embark for Breeders Dog DNA Tests. 

 

Lisa Peterson Contributor

Award-winning writer, journalist, and podcast host Lisa Peterson is a canine subject matter expert and Content Strategy Lead at Embark Veterinary. She served as the American Kennel Club director of communications and club communications for 10 years before becoming a Westminster Kennel Club public relations consultant from 2016 to 2021. Lisa began owning, breeding, and handling Norwegian Elkhounds more than 35 years ago, and today is an AKC judge and AKC Breeder of Merit.

Read more about Lisa Peterson

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