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Dental Hypomineralization

Canine Dental Hypomineralization (CDH) is an inherited genetic disorder in Border Collies causing severe tooth wear and pulpitis.

Affected Genes: FAM20C

Inheritance: Autosomal Recessive

Variant(canFam6):
chr6:17924208: G>A

Breed: Border Collie
Bordoodle

General Information: Canine Dental Hypomineralization (CDH), also known as Raine Syndrome, is a genetic disorder primarily affecting Border Collies. This condition causes inadequate mineralization of teeth, resulting in brittle, discolored teeth that are prone to cracking and severe premature wear. Affected dogs often present with significant tooth wear, light brown discoloration of the enamel, and exposure of the tooth pulp, which can lead to pulpitis, severe pain, inflammation, and an increased risk of oral infections. The excessive wear is not due to abnormal tooth-to-tooth contact, as the occlusion is typically normal. Over time, the damage to the teeth can be irreparable, necessitating tooth extractions to alleviate pain and prevent further complications.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Canine Dental Hypomineralization (CDH) involves screening for mutations in the FAM20C gene, which is responsible for the condition. This autosomal recessive disorder requires two copies of the mutated gene for a dog to be affected. Carrier dogs typically do not show symptoms, but breeding two carriers can produce affected pups, with each pup having a 25% chance of developing the disease. Genetic testing is essential for informed breeding practices to prevent the mutation. Breeding of two carrier dogs is not recommended.Non-carrier dogs have no increased risk of producing affected pups from this known variant.

References:
Hytonen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drogemuller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet. 2016 12(5):e1006037.