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Dermatosparactic Ehlers–Danlos Syndrome

Dermatosparactic Ehlers–Danlos Syndrome (dEDS) is a rare connective tissue disorder caused by mutations in the ADAMTS2 gene, leading to skin hyperelasticity, fragility, and abnormal wound healing due to impaired collagen processing.

Affected Genes: ADAMTS2

Inheritance: Autosomal Recessive Inheritance

Variant(canFam6):
chr11:2404081 1 bp deletion C

Breed: Pit Bull Terrier, Alapaha Blue Blood Bulldog

General Information: Dermatosparactic Ehlers–Danlos Syndrome (dEDS) is an inherited connective tissue disorder in dogs caused by a mutation in the ADAMTS2 gene. This condition affects the production of collagen, a critical protein for skin and tissue strength, leading to fragile skin that tears or bruises easily. dEDS is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene—one from each parent—to be affected. Dogs with one copy of the mutation are carriers but do not show clinical symptoms.

Symptoms typically include extremely fragile skin that tears with minor trauma, delayed wound healing, and excessive scarring. In some cases, affected dogs may display joint laxity and abnormal skin elasticity. Management of the condition involves minimizing trauma, providing careful wound care, and monitoring for infections. While there is no cure, supportive care can help improve the dog's quality of life.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog is a Carrier

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the ADAMTS2 gene variant can determine whether a dog is affected by or carries Dermatosparactic Ehlers–Danlos Syndrome. This disorder is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutation to develop the condition.

Dogs with one copy of the mutation are carriers and will not show symptoms but can pass the mutation to their offspring. Breeding two carrier dogs will result in a 25% chance of producing an affected puppy. Genetic testing is a critical tool for informed breeding decisions to reduce the risk of this condition in future generations.


References:
Jaffey JA, Bullock G, Guo J, Mhlanga-Mutangadura T, O'Brien DP, Coates JR, Morrissey R, Hutchison R, Donnelly KS, Cohn LA, Katz ML, Johnson GS. Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome. Genes (Basel). 2022 13(11):2158