Genetic basis - In dogs, Ehlers-Danlos Syndrome (EDS) in the Dobermann breed is caused by a specific homozygous nonsense mutation in the ADAMTS2 gene. The mutation is c.769C>T, leading to a premature stop codon p.Arg257Ter in the ADAMTS2 protein. ADAMTS2 is a protease crucial for the processing of type I procollagen into mature collagen, which gives skin and connective tissues their strength and resilience. This mutation causes a complete or near-complete loss of ADAMTS2 enzyme activity, disrupting collagen formation.
Pathophysiology - Without functional ADAMTS2, type I collagen fibrils are improperly processed, resulting in abnormal collagen structure. This leads to severely weakened connective tissues—especially skin and joints—in Dobermanns carrying two copies of the mutation. The skin becomes hyperextensible, fragile, and easily torn, with poor wound healing. Joints may become unstable and prone to hypermobility and subluxations.
Complications - Life-threatening skin wounds after minor trauma. Joint injuries causing pain and dysfunction. High risk of euthanasia due to severity and complications. Currently no cure; treatment is palliative and supportive.
Why This Matters to Breeders and Vets - EDS severely impacts a dog's welfare due to fragile skin and joint problems. Genetic testing is available for the ADAMTS2 mutation in Dobermanns, allowing breeders to: Identify carriers, Avoid carrier-to-carrier matings, preventing affected puppies. Veterinarians need to recognise this inherited disorder for. Early diagnosis based on clinical signs and history. Advising owners on management and prognosis. Avoiding unnecessary treatments for skin wounds by understanding underlying fragility. Breeders can improve breed health through responsible breeding practices informed by genetic results.