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dc.contributor.authorJaffey, J. A.eng
dc.contributor.authorBullock, G.eng
dc.contributor.authorTeplin, E.eng
dc.contributor.authorGuo, J.eng
dc.contributor.authorVillani, N. A.eng
dc.contributor.authorMhlanga-Mutangadura, T.eng
dc.contributor.authorSchnabel, R. D.eng
dc.contributor.authorCohn, L. A.eng
dc.contributor.authorJohnson, G. S.eng
dc.contributor.deptlabVeterinary Pathobiologyeng
dc.date.issued2019eng
dc.description.abstractAn 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.eng
dc.identifier10.1111/age.12825eng
dc.identifier.urihttps://hdl.handle.net/10355/73462
dc.identifier.urihttps://dx.doi.org/10.1111/age.12825eng
dc.languageEnglisheng
dc.publisherBlackwell Publishing Ltdeng
dc.rightsOpenAccesseng
dc.rights.licenseThis work is licensed under a Creative Commons license: cc-by-nceng
dc.sourceAnimal Geneticseng
dc.sourceJaffey, J.A., Bullock, G., Teplin, E., Guo, J., Villani, N.A., Mhlanga-Mutangadura, T., Schnabel, R.D., Cohn, L.A., Johnson, G.S.. (2019). A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. Animal Genetics, 50(5). 10.1111/age.12825eng
dc.sourceSource: batch harvestingeng
dc.subjectconnective tissue disease; dermatosparaxis; whole genome sequenceeng
dc.titleA homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragilityeng
dc.typeArticleeng


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