Genetic basis - caused by an autosomal recessive mutation in the SLC24A4 gene. Mutations include a g.1639448C>T substitution and a 21 base pair duplication (duplication g.1679098-1679118) in the SLC24A4 gene. SLC24A4 encodes a potassium-dependent sodium/calcium exchanger critical for enamel mineralization during tooth development.
Pathophysiology - Mutation disrupts enamel formation, causing severe enamel hypoplasia (thinning or absence of enamel). Affected adult teeth are abnormal, brittle, and prone to damage due to lack of protective enamel. Puppy teeth (deciduous teeth) appear normal because enamel formation abnormalities develop during permanent adult tooth formation.
Complications - Severe dental disease causes pain, difficulty eating, and tooth loss. Increased risk of bacterial infections from damaged teeth and gums. Poor quality of life without appropriate management.
Why This Matters to Breeders and Vets - Early identification through DNA testing helps breeders avoid mating carriers, reducing disease incidence. Affected dogs require strict dental care to prevent severe oral pain and secondary infections. Preventing enamel hypoplasia improves animal welfare and reduces costly dental treatments. Important for veterinarians to diagnose and manage this condition appropriately.