Ehlers-Danlos syndrome type 1 / cEDS (COL5A1-related) - Cat

About Ehlers-Danlos syndrome type 1

This DNA test assesses the COL5A1 variant c.3420delG for Ehlers-Danlos syndrome type 1 in cats. The condition is also known as classical Ehlers-Danlos syndrome, cEDS or Ehlers-Danlos syndrome, classic type 1.

COL5A1 encodes a component of type V collagen, an important structural protein in connective tissue. A disruptive variant can affect the strength and organisation of skin, scars, joints and other connective tissues.

What can it mean?

• Skin: unusually stretchy or fragile skin, easy tearing and slower wound healing.
• Scarring: thin, shiny or abnormal scars after skin injury.
• Connective tissue: joint laxity and other signs of reduced connective-tissue strength may occur.

Practical value of this test

The trait is inherited as autosomal dominant. One copy of the tested variant can therefore be important for interpretation. The result helps identify cats carrying the variant, supports breeding decisions and adds genetic clarity when skin or connective-tissue signs are present.