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Ehlers-Danlos Syndrome (Labrador Retriever Type), Variant 2

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Test Overview:

Ehlers-Danlos Syndrome (Labrador Retriever Type), Variant 2, commonly referred to as EDS or Cutaneous Asthenia, is a genetically inherited disorder primarily characterized by the fragility of the skin, hyperextensible skin, and joint laxity. In affected Labrador Retrievers, this condition stems from a specific variant mutation that affects the connective tissues throughout the body. This syndrome is of particular concern due to the resultant tissue and skin being easily tearable or stretchable beyond normal limits, which can cause severe and recurrent skin wounds. The underlying issue is the reduced or dysfunctional production of collagen, a critical protein in connective tissues, due to the genetic mutation. Labrador Retrievers with this condition might also show signs of bruising easily and having loose joints, potentially complicating normal activity and mobility. Diagnosis of EDS in Labrador Retrievers is primarily achieved through genetic testing, where a DNA test can identify the specific variant responsible for the condition. It’s crucial for breeders to test for this condition to avoid breeding affected individuals, thereby preventing the perpetuation of this debilitating disorder in future generations. Management of EDS involves preventive care to minimize skin trauma and meticulous wound management to combat infection and facilitate healing. There is no cure for EDS, hence the importance of genetic counseling and responsible breeding practices cannot be overstated.

Category:

Dermatologic - Associated with the skin

Gene:

COL5A1

Variant Detected:

chr9:50891817 (canFam4): G/A

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 2).

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 Labradoodle , Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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