dc.contributor.author | Jaffey, J. A. | eng |
dc.contributor.author | Bullock, G. | eng |
dc.contributor.author | Teplin, E. | eng |
dc.contributor.author | Guo, J. | eng |
dc.contributor.author | Villani, N. A. | eng |
dc.contributor.author | Mhlanga-Mutangadura, T. | eng |
dc.contributor.author | Schnabel, R. D. | eng |
dc.contributor.author | Cohn, L. A. | eng |
dc.contributor.author | Johnson, G. S. | eng |
dc.contributor.deptlab | Veterinary Pathobiology | eng |
dc.date.issued | 2019 | eng |
dc.description.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. | eng |
dc.format.extent | 3 pages : illustration | eng |
dc.identifier | 10.1111/age.12825 | eng |
dc.identifier.uri | https://hdl.handle.net/10355/73462 | |
dc.identifier.uri | https://dx.doi.org/10.1111/age.12825 | eng |
dc.language | English | eng |
dc.publisher | Blackwell Publishing Ltd | eng |
dc.rights | OpenAccess. | eng |
dc.rights.license | This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 License. | eng |
dc.rights.license | https://creativecommons.org/licenses/by-nc/4.0 | eng |
dc.source | Animal Genetics | eng |
dc.source | Jaffey, 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.12825 | eng |
dc.source | Source: batch harvesting | eng |
dc.subject | connective tissue disease ; dermatosparaxis ; whole genome sequence | eng |
dc.title | A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility | eng |
dc.type | Article | eng |