Amelogenesis Imperfecta (Italian Greyhound Type)
Affected Genes: ENAM
Inheritance: Autosomal Recessive
Variant(canFam6):
chr13:59680644-5968048: 5 bp deletion TTTCC
Breed: Italian Greyhound
General Information: Amelogenesis Imperfecta (AI) in Italian Greyhounds is an inherited dental disorder where signs often appear when baby teeth erupt. Affected dogs cannot develop normal tooth enamel, leading to misshaped teeth with rough surfaces and gray or brown spots. Permanent teeth are typically smaller and more pointed, with excessive enamel wear causing larger gaps between teeth. Despite these defects, affected dogs are not at increased risk for periodontal disease and rarely develop cavities or broken teeth.
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 in Italian Greyhounds can identify carriers of Amelogenesis Imperfecta (AI). This disorder is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the disease to manifest. Carrier dogs typically do not exhibit symptoms, but breeding two carriers together can result in affected pups, with each pup having a 25% chance of developing AI and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to prevent the disorder. Non-carrier dogs have no increased risk of producing affected pups.
References:
Gandolfi B, Liu H, Griffioen L, Pedersen NC. Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian greyhounds. Anim Genet. 2013 44(5):569-578.