A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.
Anim Genet
; 50(5): 543-545, 2019 Oct.
Article
en En
| MEDLINE
| ID: mdl-31294848
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 (ADAMTS2c.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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de la Piel
/
Enfermedades de los Perros
/
Síndrome de Ehlers-Danlos
/
Proteínas ADAMTS
Límite:
Animals
Idioma:
En
Revista:
Anim Genet
Asunto de la revista:
GENETICA
/
MEDICINA VETERINARIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Estados Unidos