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Raine Syndrome Dental Hypomineralisation (Border Collie)
Test Overview:
Canine dental hypomineralization or Raine Syndrom is a genetic disorder affecting the Border Collies. The disorder causes severe tooth wear resulting in pulpitis and requiring extraction of those teeth. Dental hypomineralization is a canine model for human Raine Syndrome.Dental examination of the affected dogs reveals a significant wear. Lower incisor teeth can be worn close to the gingival margin. The enamel shows a light brown discoloration and appears dull. Some worn teeth can have a pulp exposure and pulpits as a result of the wear.
Category:
Dental - Associated with the teeth and associated structures
Gene:
FAM20C
Variant Detected:
c.899C>T
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, et al. (2016) Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PloS Genet 12(5): e1006037. doi:10.1371/journal. pgen.1006037 Hytönen, M.K., Lohi, H. : Canine models of human rare disorders. Rare Dis 4:e1241362, 2016. Pubmed reference: 27803843. DOI: 10.1080/21675511.2016.1241362.
Associated Breed(s):
Border Collie, Koolie , Mixed Breed,
