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Ehlers-Danlos Syndrome (Dobermann Type)

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Test Overview:

Test all breeding Dobermanns for the ADAMTS2 mutation. Avoid mating two carriers to prevent affected puppies. Breed carriers only to clear (non-carrier) dogs with offspring testing before breeding. Implement breeding plans that maintain diversity while reducing disease incidence.

Category:

Dermatologic - Associated with the skin

Gene:

ADAMTS2

Variant Detected:

c.769C>T, resulting in p.Arg257Ter

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

Recommended Screening:

Genetic testing of the ADAMTS2 gene will reliably determine if a dog is a genetic carrier of Ehlers-Danlos Syndrome (Doberman Pinscher Type).

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/31294848/ Jaffey JA, Bullock G, Teplin E, Guo J, Villani NA, Mhlanga-Mutangadura T, Schnabel RD, Cohn LA, Johnson GS. A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. Anim Genet. 2019 Oct;50(5):543-545. [PubMed: 31294848]

Associated Breed(s):

Dobermann,

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