57,48 47,50 IVA esclusa

H732

Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

Informazioni generali

Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. The variant analysed in this test, Ehlers-Danlos Syndrome type VII (also known as Dermatosparaxis) is found in the Doberman Pinscher, and is caused by a recessive mutation to the gene ADAMTS2. Similar variants of Dermatosparaxis also affect the Alapaha Blue Blood Bulldog, Pit Bull Terrier and the Catahoula Leopard Dog.

Caratteristiche cliniche

Affected puppies may die at birth. Survivors present within the first few weeks of age with loose, elastic and fragile skin; painful and hypermobile joints; and ocular chemosis (swollen eyes). The skin is easily injured or torn, and wounds are persistent. Euthanasia on humane grounds may be necessary.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 31294848

Omia ID: 328

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