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Ehlers-Danlos Syndrome (Dobermann Type)

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Description:

-

Test Overview:

Ehlers-Danlos Syndrome (EDS) in Doberman Pinschers, often referred to as Doberman Pinscher Type EDS, is a rare but significant genetic connective tissue disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. This condition results from mutations affecting collagen synthesis, a critical component of connective tissues throughout the body. In affected dogs, this can lead to symptoms such as unusually stretchy, fragile skin that tears easily from minor bumps or scrapes. Dogs with this syndrome may also suffer from joint dislocations and chronic pain due to the instability of their joints. Genetic testing plays a crucial role in diagnosing this condition, allowing breeders and veterinarians to identify carriers or affected dogs effectively. This is particularly important in breeding programs to avoid passing the defective gene to offspring. By employing DNA tests, it's possible to manage the breeding of Doberman Pinschers more responsibly, ensuring the health and wellbeing of future generations.

Category:

Dermatologic - Associated with the skin

Gene:

ADAMTS2

Variant Detected:

nonsense (c.769C>T) chr11

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/31294848/

Associated Breed(s):

Dobermann,

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