A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. (11th July 2019)

• Record Type: Journal Article
• Authors: Jaffey, J. A.; Bullock, G.; Teplin, E.; Guo, J.; Villani, N. A.; Mhlanga‐Mutangadura, T.; Schnabel, R. D.; Cohn, L. A.; Johnson, G. S.
• Is Part Of: Animal genetics. Volume 50:Number 5(2019)
• Page Start: 543
• Page End: 545
• Publication Date: 2019-07-11
• Subjects: connective tissue disease -- dermatosparaxis -- whole genome sequence; Animal genetics -- Periodicals; 572.8
• DOI: 10.1111/age.12825
• Languages: English
• ISSNs: 0268-9146

Abstract

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 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.