Testing of dogs: Raine-syndrome

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Usual turnaround time: 7 business days
1 test price: 54.00 $ without VAT

Dental Hypomineralization in Border Collie  (Raine Syndrome)

Dental Hypomineralization is a hereditary disease characterized by insufficient mineralization of teeth during the teeth development.  It is caused by point mutation in c.899C>T gene coding for FAM20C protein that binds calcium and phosphorylates proteins involved in bone and teeth mineralization.

This disease causes extensive wear of teeth, cracking of tooth enamel, brownish spots or brownish discolouration of teeth or pulpitis (i.e. dental pulp inflammation). Severe tooth wear leads to chronic inflammation of the pulp up to the loss of teeth. Histologically, dentin of affected dogs has an abnormal structure and the enamel can be slightly hypoplastic.

Dental hypomineralization is specific to Border Collies; it has not been proven in other breeds. In Border Collies, this defect is relatively common, it is estimated that approximately 11% of the breed population are carriers of this genetic defect.

Raine-syndrome is a recessively inherited disease. The disease develops in dogs which inherit the mutated gene from each parent.  These dogs are designated as P/P (positive/positive). The carriers of the mutated gene are designated as N/P (negative/positive). The carriers inherited the mutated gene from one parent only and are without clinical signs. However, they pass the disease on to their offspring.  When mating two heterozygotes (N/P), there will be theoretically 25% of the offspring healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will be affected by Raine-syndrome.  Mating one healthy dog (N/N) with a carrier of this mutation (N/P) will theoretically produce 50% carriers and 50% healthy offspring.  If a carrier (N/P) is mated with an affected dog (P/P), there will be theoretically 50% affected dogs and 50% carriers.

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References:

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

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Usual turnaround time: 7 business days
1 test price: 54.00 $ without VAT