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A homozygous ADAMTS 2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility
Author(s) -
Jaffey J. A.,
Bullock G.,
Teplin E.,
Guo J.,
Villani N. A.,
MhlangaMutangadura T.,
Schnabel R. D.,
Cohn L. A.,
Johnson G. S.
Publication year - 2019
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/age.12825
Subject(s) - degloving , nonsense mutation , biology , scars , mutation , anatomy , pathology , genetics , medicine , gene , missense mutation
Summary 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 ADAMTS 2 transcript ( ADAMTS 2: c.769C>T) and encode a nonsense mutation (p.Arg257Ter). Biallelic ADAMTS 2 mutations have caused a type of Ehlers Danlos syndrome known as dermatosparaxis in other species.