Peer-reviewed veterinary case report
Doberman puppy with fragile skin and Ehlers Danlos syndrome gene
By Jaffey, J A et al.·Published in Animal genetics·2019·Department of Small Animal Medicine and Surgery, United States·View original on PubMed →
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Original publication title: A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.
- Species:
- dog
Plain-English summary
A 8-week-old Doberman Pinscher was diagnosed with Ehlers Danlos syndrome, which caused its skin to be loose and fragile, leading to multiple wounds and large scars. Unfortunately, the dog suffered a severe injury from a minor trauma and was euthanized due to the extent of its condition. Genetic testing revealed a rare mutation linked to this syndrome, which is known to cause extreme skin fragility in other animals as well.
People also search for: Doberman Pinscher skin problems · Ehlers Danlos syndrome in dogs · dog skin fragility treatment
Abstract
An eight-week old Doberman Pinscher was diagnosed with Ehlers Danlos syndrome based on the dog's hyper-mobile carpal, tarsal and stifle joints and abnormal skin. The skin was loose and hyper-elastic with several wounds and large atrophic scars. The dog was euthanized after a severe degloving injury from minimal trauma. A whole-genome sequence, generated with DNA from the dog's blood, contained a rare, homozygous 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). Biallelic ADAMTS2 mutations have caused a type of Ehlers Danlos syndrome known as dermatosparaxis in other species.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/31294848/