Breeds Affected: Italian Greyhhound
Samples Accepted: Blood, Buccal Swabs
Disease Information: Amelogenesis Imperfecta, also known as Familial Enamel Hypoplasia (FEH), is a disorder in which enamel does not cover the teeth normally. Both puppy and adult teeth may be smaller than normal and have an uneven or rough texture, and may look to have darker regions or spots due to uneven enamel coverage. This disorder does not appear to be associated with gum or major tooth disease, but some affected dogs may develop cavities.
Inheritance Information: Amelogenesis Imperfecta is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/AI The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/AI carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
AI/AI The dog is affected – if bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/AI carrier, 50% of the offspring will be carriers and 50% will be affected.
This condition is mainly cosmetic, with a very small effect on the health of the dog. A breeder may want to consider the overall merits of a dog before eliminating it from a breeding program.
Test Information: This test identifies a 5 nucleotide deletion in exon 10 of the ENAM gene.
Gandolfi, B., Liu, H., Griffioen, L., Pedersen, N.C.: Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds. Anim Genet 44:569-78, 2013. Pubmed reference: 23638899. DOI: 10.1111/age.12043
Further information is available at the Online Mendelian Inheritance in Animals website.