Ehlers-Danlos Syndrome Type 7 – Doberman
Code: H732
Short description
Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility.
General information
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 (Type 7, 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.
Specifications
| Breeds | |
|---|---|
| Gene | ADAMTS2 |
| Chromosome | 11 |
| Mutation | c.769C>T |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
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.
References
Pubmed ID: 31294848
Year published: 2019
Omia ID: 328
Omia variant ID:
Turnaround information
- 15 working days