Ehlers-Danlos Syndrome (EDS, COL5A1-related) – Bengal
Code: K485
Short description
Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders that affect the skin, joints, and blood vessel walls.
General information
Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders that affect the skin, joints, and blood vessel walls. The condition results from defects in the synthesis and structure of collagen, which is a crucial protein for the strength and elasticity of connective tissue. An autosomal dominant mutation in the collagen, type V, alpha 1 (COL5A1) gene lead to Type 1 EDS. This is also known as Classical EDS (cEDS) or Feline cutaneous asthenia and is one of the most common forms which is characterized by hyper-elastic skin and joint hypermobility. This variant tested for is specific for the Bengal breed.
Specifications
| Breeds | |
|---|---|
| Gene | COL5A1 |
| Chromosome | D4 |
| Mutation | c.112_118+15del |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant |
| Also known as | cEDS |
Clinical features
The collagen fibers in cats with EDS Type 1 have an abnormal structure which means the skin is friable and fragile and prone to damage. The skin is weaker, and its structural properties are reduced leading to laxity of joints, poor wound healing and abnormal scarring. The collagen deficiency also affects other tissues in the body, including the heart, blood vessels, and eyes. The combination of fragile skin and weaker blood vessels can lead to bruises or hematomas under the skin or swelling around joints.
Symptoms can develop within a few hours to a maximum of several months after birth. Cats with mild EDS have a normal live expectancy, although they are at high risk of skin injuries and constant management of wounds is required.
References
Pubmed ID: 35627182
Year published: 2022
Omia ID: 2165
Omia variant ID:
Turnaround information
- 15 working days