Ectodermal dysplasia / Skin Fragility Syndrome / ED-SFS (PKP1-related) - Chesapeake Bay Retriever and Golden Retriever

What does this test examine?

This genetic test analyses the PKP1 variant c.202+1G>C for ectodermal dysplasia / Skin Fragility Syndrome in the Chesapeake Bay Retriever and Golden Retriever. The condition is also known as ED-SFS, ectodermal dysplasia-skin fragility syndrome, fragile skin and an epidermolysis bullosa-like skin fragility syndrome.

What does this condition mean?

ED-SFS is a severe inherited skin disorder in which the connection between skin cells is insufficiently strong. Affected puppies may show extremely fragile skin immediately after birth, with sloughing of skin layers, erosions, bleeding at sensitive sites such as nose, footpads and ear tips, fissures around lips or face and a finer or thinner coat. The condition therefore has major impact on welfare and care.

Inheritance and result

The condition is inherited as autosomal recessive. A dog with G/G does not carry the variant. A dog with G/C is a carrier and can pass the variant to offspring. A dog with C/C has two copies and develops the tested inherited form of ED-SFS.

Practical value of this test

• helps identify carriers in Chesapeake Bay Retriever and Golden Retriever lines
• makes breeding combinations safer by enabling carrier-to-carrier pairings to be avoided
• supports responsible management of a severe skin disorder with early clinical impact
• provides clear information for breeders, owners and breed clubs aiming to prevent skin fragility