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Enamel Hypoplasia - Amelogenesis Imperfecta (Samoyed Type)

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Test Overview:

Genetic testing of breeding Samoyeds to identify carriers. Avoid breeding two carriers to prevent affected offspring. Breeders should use test results to maintain genetic diversity while minimising this disease.

Category:

Dental - Associated with the teeth and associated structures

Gene:

SLC24A4

Variant Detected:

g.1639448C>T substitution and a 21 base pair duplication (duplication g.1679098-1679118)

Severity:

Low. This disease generally causes mild signs of disease, or can be quite easily treated/managed.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Enamel Hypoplasia - Amelogenesis Imperfecta.

Research Citation(s):

Pedersen NC, Shope B, Liu H. An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol. 2017 Nov 22;4:11. [PubMed: 29201383]

Associated Breed(s):

Samoyed,

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