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Amelogenesis Imperfecta (Akita Type)

Amelogenesis Imperfecta (Akita Type)

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Test Overview:

The study revealed two new canine AI variants in ENAM and ACP4 genes. Both of these genes play a significant role in the secretory stage of amelogenesis and their defects lead to enamel hypoplasia.

Category:

Dental - Associated with the teeth and associated structures

Gene:

ACPT

Variant Detected:

c.1189dupG p.(Ala397Glyfs)

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Hytönen, M.K., Arumilli, M., Sarkiala, E., Nieminen, P., Lohi, H. : Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet :, 2019. Pubmed reference: 30877375. DOI: 10.1007/s00439-019-01997-8.

Associated Breed(s):

Akita ,

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