A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility

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 in...

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Autores principales: Jaffey, J. A., Bullock, G., Teplin, E., Guo, J., Villani, N. A., Mhlanga‐Mutangadura, T., Schnabel, R. D., Cohn, L. A., Johnson, G. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Short Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771693/
https://www.ncbi.nlm.nih.gov/pubmed/31294848
http://dx.doi.org/10.1111/age.12825
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author Jaffey, J. A.
Bullock, G.
Teplin, E.
Guo, J.
Villani, N. A.
Mhlanga‐Mutangadura, T.
Schnabel, R. D.
Cohn, L. A.
Johnson, G. S.
author_facet Jaffey, J. A.
Bullock, G.
Teplin, E.
Guo, J.
Villani, N. A.
Mhlanga‐Mutangadura, T.
Schnabel, R. D.
Cohn, L. A.
Johnson, G. S.
author_sort Jaffey, J. A.
collection PubMed
description 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.
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spelling pubmed-67716932019-10-07 A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility Jaffey, J. A. Bullock, G. Teplin, E. Guo, J. Villani, N. A. Mhlanga‐Mutangadura, T. Schnabel, R. D. Cohn, L. A. Johnson, G. S. Anim Genet Short Communications 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. John Wiley and Sons Inc. 2019-07-11 2019-10 /pmc/articles/PMC6771693/ /pubmed/31294848 http://dx.doi.org/10.1111/age.12825 Text en © 2019 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Short Communications
Jaffey, J. A.
Bullock, G.
Teplin, E.
Guo, J.
Villani, N. A.
Mhlanga‐Mutangadura, T.
Schnabel, R. D.
Cohn, L. A.
Johnson, G. S.
A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility
title A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility
title_full A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility
title_fullStr A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility
title_full_unstemmed A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility
title_short A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility
title_sort homozygous adamts2 nonsense mutation in a doberman pinscher dog with ehlers danlos syndrome and extreme skin fragility
topic Short Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771693/
https://www.ncbi.nlm.nih.gov/pubmed/31294848
http://dx.doi.org/10.1111/age.12825
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