A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.

Autor: 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.
Jazyk: angličtina
Zdroj: Animal genetics [Anim Genet] 2019 Oct; Vol. 50 (5), pp. 543-545. Date of Electronic Publication: 2019 Jul 11.
DOI: 10.1111/age.12825
Abstrakt: 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.
(© 2019 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.)
Databáze: MEDLINE
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