Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier)

Amelogenesis imperfecta (AI), also known as enamel hypoplasia, is a disorder where the hard enamel covering of the teeth is thin, roughened and discolored.

Found in

1 in 1,300 dogs

in our testing

Key Signs

Discolored teeth, Enamel roughening, Enamel thinning, and Small, pointed teeth

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with AI

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about AI

Amelogenesis imperfecta is characterized by defects in the enamel formation of both baby teeth and permanent teeth. Enamel formation starts before the eruption of the first teeth and there will be no subsequent repair of the enamel after eruption. The enamel of affected teeth erodes more rapidly over the years than normal enamel. The teeth of affected dogs are pitted, rough, and discolored brown. Affected teeth are often small and pointed with increased gaps. This form of amelogenesis imperfecta is relatively mild, and the affected teeth function in a nearly normal fashion. There is no treatment available for amelogenesis imperfecta, but most dogs live a normal life with mild signs.

For dogs affected with this condition, particular attention should be paid to maintaining good dental health. Dental intervention may be needed in some cases.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier) is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. A carrier dog with one copy of the Amelogenesis Imperfecta mutation can be safely bred with a clear dog with no copies of the Enamel hypoplasia mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Amelogenesis Imperfecta mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the Amelogenesis Imperfecta mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene	ENAM
Variant	C>T
Chromosome	13
Coordinate	59,945,218

All coordinates reference CanFam3.1

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References & Credit

Credit to our scientific colleagues:

Hytönen, M. K., Arumilli, M., Sarkiala, E., Nieminen, P., & Lohi, H. (2019). Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Human Genetics, 0(0), 0. View the article