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Ehlers-Danlos Syndrome (Labrador Type)

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Test Overview:

Ehlers-Danlos syndrome, also called cutaneous astheaia or dermatoisparaxis, refers to a group of inherited connective tissue disorders resulting in defective collagen synthesis. As the disease is inherited, young animals are predisposed. “Stretchy” skin occurs which is predominantly near joints of the limbs. The skin tears easily and wounds may breakdown and scarring is a common sequel. Diagnosis is clinical and biopsy may demonstrate abnormal collagen but is frequently non-diagnostic. Masson’s trichrome stain has been reportedly more useful. Collagen fibers appear fragmented with variations in length and diameter with disarray of orientation. Electron microscopy may be diagnostic if doubt exists following routine histopathological examination. There is no treatment and management is centered around lifestyle risk management.

Category:

Dermatologic - Associated with the skin

Gene:

COL5A1, chr9

Variant Detected:

c.3038delG p.Gly1013ValfsTer260

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Dominant

Recommended Screening:

Genetic testing of the COL5A1 gene will reliably determine if a dog is a genetic carrier of Ehlers-Danlos Syndrome (Labrador Retriever Type, Variant 1).

Research Citation(s):

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):

Australian Cobberdog, Australian Labradoodle , Cavador, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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