Dental hypomineralization / Raine syndrome (FAM20C-related) - Border Collie

What does this test analyse?

This genetic test analyses the FAM20C variant c.899C>T for dental hypomineralization / Raine syndrome in Border Collie dogs. The test determines whether the dog is clear, a carrier or genetically affected for this specific autosomal recessive variant.

What does this condition mean?

Dental hypomineralization is an inherited tooth mineralization disorder in Border Collies. The condition is also known as Dental Hypomineralization, DH, tooth hypomineralization, enamel and dentine mineralization defect and a Raine syndrome-like FAM20C condition.

Affected dogs develop teeth that are less hard and less resistant to wear. Teeth can therefore wear down early and severely, discolour, become sensitive and develop pulpitis. In severe cases, tooth extraction may be needed.

Practical value of this test

• Gives breeders clear information about clear, carrier and genetically affected dogs before breeding decisions are made.
• Helps avoid carrier-by-carrier matings and thereby prevent affected puppies.
• Supports breed-focused selection without automatically removing valuable carriers from a breeding programme.
• Makes the result useful for purchase decisions, mating plans, litter planning and communication with puppy buyers or veterinarians.

Inheritance and result

The trait is inherited as autosomal recessive. A dog with two normal alleles is clear. A dog with one copy is a carrier and can pass the variant on. A dog with two copies is genetically affected for this tested form of the condition.

Other conditions can cause similar clinical signs. This test therefore provides targeted genetic information about the variant for which the analysis was designed.