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Raine Syndrome Dental Hypomineralisation (Border Collie) Overview

Raine Syndrome Dental Hypomineralisation (Border Collie)
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Category: Dental - Associated with the teeth and associated structures

Gene: FAM20C

Variant Detected: c.899C>T

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

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.

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,  Mixed Breed,