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A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.
Jaffey, J A; Bullock, G; Teplin, E; Guo, J; Villani, N A; Mhlanga-Mutangadura, T; Schnabel, R D; Cohn, L A; Johnson, G S.
Affiliation
  • Jaffey JA; Department of Small Animal Medicine and Surgery, Midwestern University, Glendale, 85308, AZ, USA.
  • Bullock G; Department of Veterinary Pathobiology, University of Missouri, Columbia, 65211, MO, USA.
  • Teplin E; South Willamette Veterinary Clinic, 55 Emerald Parkway, Creswell, 97426, OR, USA.
  • Guo J; Department of Veterinary Pathobiology, University of Missouri, Columbia, 65211, MO, USA.
  • Villani NA; Department of Veterinary Pathobiology, University of Missouri, Columbia, 65211, MO, USA.
  • Mhlanga-Mutangadura T; Department of Veterinary Pathobiology, University of Missouri, Columbia, 65211, MO, USA.
  • Schnabel RD; Division of Animal Sciences, University of Missouri, Columbia, 65211, MO, USA.
  • Cohn LA; Department of Veterinary Medicine and Surgery, University of Missouri, Columbia, 65211, MO, USA.
  • Johnson GS; Department of Veterinary Pathobiology, University of Missouri, Columbia, 65211, MO, USA.
Anim Genet ; 50(5): 543-545, 2019 Oct.
Article in En | MEDLINE | ID: mdl-31294848
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Diseases / Dog Diseases / Ehlers-Danlos Syndrome / ADAMTS Proteins Limits: Animals Language: En Journal: Anim Genet Journal subject: GENETICA / MEDICINA VETERINARIA Year: 2019 Document type: Article Affiliation country: United States Country of publication: United kingdom

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Diseases / Dog Diseases / Ehlers-Danlos Syndrome / ADAMTS Proteins Limits: Animals Language: En Journal: Anim Genet Journal subject: GENETICA / MEDICINA VETERINARIA Year: 2019 Document type: Article Affiliation country: United States Country of publication: United kingdom