Description: Enamel formation is a strictly regulated process in which various genes and their products are involved. Mutations in any of them can result in defective development. Amelogenesis imperfecta (AI) is an inherited tooth disease affecting the structure, composition, and amount of enamel formed in the process of amelogenesis. Non-syndromic and syndromic forms are known, and several genes responsible for various aspects of enamel physiology have been described. Non-syndromic AI also occurs spontaneously in dogs with known autosomal recessive variants in the ACP4 (Hytönen et al., 2019), ENAM (Gandolfi et al., 2013; Hytönen et al., 2019), and SLC24A4 (Pedersen et al., 2017) genes. Affected dogs have a rough tooth surface with brown spots in places where the enamel is thin or completely absent. Their teeth can be smaller, and pointed, with large gaps between the individual teeth. They are more prone to dental plaque, fractures, gingivitis, pulpitis, or other periodontal diseases.
The ENAM gene located on chromosome 13 encodes the evolutionarily conserved glycoprotein enamelin. Its role is to maintain the integrity of ameloblasts, participate in the elongation of hydroxyapatite crystals, and thus achieve their correct structural organization with optimal enamel thickness.
Inheritance: autosomal recessive
Mutation: c.716C>T (p.Pro239Leu) in exon 8 of ENAM gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Parson Russell Terrier
Notes: Another mutation 5bp deletion c.1991_1995 delTTTCC in ENAM gene has been described for Italian Greyhounds.