In other species: domestic cat , cattle , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 225410

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Molecular basis: Whole-genome sequencing of the single affected dog, followed by sequence analysis of 19 comparative functional candidate genes enabled Jaffy et al. (2019) to identify the likely causal variant as a "C-to-T transition at position 2408978 on chromosome 11. This transition is predicted to alter the ADAMTS2 transcript (ADAMTS2:c.769C>T) and encode a nonsense mutation (p.Arg257Ter)."

Clinical features: Jaffy et al. (2019): "an 8‐week‐old male Doberman Pinscher . . . was presented to South Willamette Veterinary Clinic for evaluation of cutaneous wounds. The physical examination identified pain, hyper‐mobility and moderate effusion in the carpal, tarsal and stifle joints. In addition, bilateral ocular chemosis and elevation of the nictitating membranes were noted. The skin had several wounds in various stages of healing, and several small, atrophic scars from previous wounds that had healed by secondary intention were apparent. The ventral abdomen had a fresh linear 6‐cm‐long wound. The skin was noticeably loose and hyper‐elastic".

Breed: Doberman Pinscher.

Associated gene: