Ehlers-Danlos syndrome type 7 / dermatosparaxis (ADAMTS2-related) - Doberman Pinscher

What does this test analyse?

This genetic test analyses the ADAMTS2 c.769C>T variant in the Doberman Pinscher. The disorder is called Ehlers-Danlos syndrome type 7 and is also known as dermatosparaxis, dermatosparactic EDS or a severe inherited connective-tissue disorder.

ADAMTS2 is involved in collagen processing. When this process is disrupted, the skin can become extremely fragile, loose and elastic. Affected puppies may show deep skin wounds, tearing, scarring, joint hypermobility and painful joint swelling.

Practical value of this test

The test is especially valuable for Doberman lines where skin fragility or related EDS risks need to be managed. Because the trait is autosomal recessive, carriers are usually not affected themselves, but two carriers can produce affected puppies. The result supports targeted mating plans and helps prevent a serious recessive variant from remaining unnoticed in the breeding population.

• C/C: the tested variant was not detected.
• C/T: the dog is a carrier and can pass the variant on.
• T/T: this genotype causes the tested ADAMTS2-related EDS type 7 form.