Dental Hypomineralization 

 

Gene: FAM20C

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, FAM20C gene; c.899 C>T, p.(A300V), exon6

Medical system: Dental

Breeds: American Staffordshire Terrier/Amstaff, Border Collie, Bullmastiff, Doberman Pinscher, Golden Retriever, Pembroke Welsh Corgi, Poodle - Standard, Schnauzer - Miniature, Shiba Inu, Siberian Husky, Yorkshire Terrier

Age of onset of symptoms: Around 2 years of age

Dental hypomineralization is an autosomal recessive genetic disease that affects tooth formation in Border Collies. A mutation in the FAM20C gene results in a defect in tooth mineralization.  Affected animals show brown discoloration of teeth at a young age while clinical signs of excessive tooth wear become evident around 2 years of age.  Excessive tooth wear can eventually lead to exposure of the tooth pulp which in turn can become infected.  This condition is painful and eventually leads to the death of the tooth. Treatment is extraction of severely worn teeth

 

References:

OMIA link: [2015-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Hytönen MK, Arumilli M, Lappalainen AK, et al. (2016). Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS genetics, 12(5), e1006037. [pubmed/27187611]

Hytönen MK, Lohi H. (2016) Canine models of human rare disorders. Rare Diseases, 4(1), e1006037. [pubmed/27803843]

 

Contributed by: Emily Morgan, Class of 2020, Faculty of Veterinary Medicine, University of Montreal.