Canine Dental Hypomineralization (Raine Syndrome)

Acronym: Dental hypomineralization
Gene: FAM20C
Mutation: c.899C>T
Inheritance: Autosomal recessive
Sample type: CHS (Cheek Swab), WBE (Whole Blood EDTA)


Genetics and characteristics

Canine dental hypomineralization or Raine syndrome is a genetic disorder affecting 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 Syndrom, with which it shares the causative mutation and similar symptoms. In human patients, Raine syndrome is also known as osteosclerotic bone dysplasia and is characterized by craniofacial anomalies including microcephaly, noticeably low set ears, osteosclerosis, a cleft palate, gum hyperplasia, a hypoplastic nose, and eye proptosis.

A dental examination of the affected dogs reveals 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 pulp exposure and pulpits as a result of the wear. In examined dogs, the wear was not caused by an abnormal tooth-to-tooth contact, since the occlusion was normal. Blood tests showed normal calcitriol, phosphate, and alkaline phosphatase levels. The enamel, depending on the position, can be largely worn and cracked. Overall, clinical and histopathological analyses indicate severe hypomineralization of teeth in the affected dogs.

Canine dental hypomineralization is caused by a mutation in the FAM20C gene. Genotypization revealed a carrier rate of 11% among 200 tested Border Collies. The mutation was not found in other breeds, suggesting it is specific to the Border Collie breed. Raine syndrome in Border Collies is inherited in an autosomal recessive pattern. Healthy parents of the affected puppy are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes have no symptoms. Dogs homozygous for the mutation will display the symptoms of dental hypomineralization. At conception, when mating two carrier dogs, each cub has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.

 


Results Reported As

 
Test Result
Interpretation of test result
CLEAR
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring.
CARRIER
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring.
AFFECTED
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring.

 

 

 

 

 

 

 

 

 

 

*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.

** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.

 


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. https://doi.org/10.1371/journal.pgen.1006037

 


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Suitable for breeds

BORDER COLLIE