Amelogenesis Imperfecta (Parson Russell Terrier Type)
Affected Genes: ENAM
Inheritance: Autosomal Recessive
Variant(canFam6):
chr13:59679368: C>T
Breed: Parson Russell Terrier
General Information: Amelogenesis Imperfecta (Parson Russell Terrier Type) is an inherited dental disorder in dogs, causing abnormal or discolored teeth with irregular surfaces. While puppy teeth may appear normal, abnormalities become evident with adult teeth, which are often blunted and spaced due to thin enamel. Affected dogs are prone to advanced periodontal disease, bad breath, and tooth loss from severe abrasions, fractures, and root infections.
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 of the ENAM gene can identify carriers of Amelogenesis Imperfecta (Parson Russell Terrier Type) in dogs. 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. Non-carrier dogs have no increased risk of producing affected pups from this known variant.
References:
Hytönen MK, Arumilli M, Sarkiala E, Nieminen P, Lohi H. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet. 2019 138(5):525-533.