Van den Ende-Gupta Syndrome (VDEGS)
Kodas: H187
Short description
Van den Ende-Gupta Syndrome (VDEGS) is a hereditary skeletal disorder.
General information
Van den Ende-Gupta Syndrome (VDEGS) is a hereditary skeletal disorder. It is due to an autosomal recessive mutation in the scavenger receptor class F, member 2 (SCARF2) gene, which plays a critical role in the bone mineralization and skeletal development. VDEGS is characterized by significant skeletal abnormalities such as joint luxations and related orthopedic issues. It is a rare but severe disorder that is primarily seen in Wire Fox Terriers.
Specifications
| Breeds | |
|---|---|
| Gene | SCARF2 |
| Chromosome | 26 |
| Mutation | c.1873_1874del |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | VDEGS |
Clinical features
Affected dogs have a prominent underbite due to a short upper jaw (maxilla). Other clinical manifestations include luxation of the elbow or patella (dislocated kneecap), swollen knee joints and skeletal deformities such as bowed legs.
References
Pubmed ID: 27187611
Year published: 2016
Omia ID: 002016
Omia variant ID:
Turnaround information
- 10 working days