A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.
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ABSTRACT:
SUBMITTER: Jaffey JA
PROVIDER: S-EPMC6771693 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
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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 JA Bullock G G Teplin E E Guo J J Villani N A NA Mhlanga-Mutangadura T T Schnabel R D RD Cohn L A LA Johnson G S GS
Animal genetics 20190711 5
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 ...[more]
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