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Amelogenesis Imperfecta

Breeds

Relevance Rating: Moderate evidence for test being meaningful for these breeds

Relevance Rating: Some evidence for test being meaningful in this breed

General

Disease Name
Amelogenesis Imperfecta
Mutation
c.1992_1996delTTTCC
Test Type
Genetic Disease/Disorder
Details
The disease is caused by a thinning or absent outer enamel layer with irregular pitting, paired with with patchy tooth discoloration. Owners report teeth appearing smaller, and having a "rough" texture with dark patches. Dogs can experience sensitivity, tooth wear, tartar, gingivitis, bad breath, and periodontal diseases leading to tooth loss and gum problems. Age of onset when the permanent teeth erupt, around 5-6 months of age (varying slightly by breed).
Details 2
The disease is characterized by a thinning or absent outer enamel layer with irregular pitting. Appearing with patchy tooth discoloration, sensitivity, tooth wear, tartar, gingivitis and periodontitis. All in all, can cause a "rough" texture and "dark patches" on the teeth. Age of onset when the permanent teeth erupt, around 5-6 months of age (varying slightly by breed). Associated periodontal disease can lead to bone loss, gum recession and tooth loss. Halitosis is also common.
Published
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.
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