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→ Insufficient mineralization affecting tooth development

Symptoms:

  • Soft, brownish enamel
  • Painful inflammation of dental nerves
  • Teeth are shortend and loose
  • Severe tooth wear

General Information:

  • Often teeth have to be removed surgically.
  • The FAM20C gene plays an important role in cell differentiation and mineralization during tooth and bone development.
  • DH is caused by changes in the FAM20C gene.
  • Symptoms have an early onset.

Inheritance: autosomal recessive

→ Only animals with two copies of the variant (dh/dh) are affected. Animals with only one copy of the variant (N/dh) are clinically healthy carriers.

Possible Genotypes:

Genotype: The dog is:
Effects:
N/N normal. The dog has no copy of the causative variant for DH and therefore cannot pass it on to its offspring.
N/dh a carrier. The dog is clinically healthy. The variant causative for DH will be passed on to its offspring with a probability of 50%.
dh/dh affected. The variant causative for DH will be passed on to all offspring. All offspring will be carriers (N/dh).

 

Recommendations:

  • Carriers may be bred to normal animals (N/dh x N/N) without any risk of producing affected offspring. The offspring should also be tested before breeding to determine if they are carriers or normal.
  • Breeding two carriers (N/dh x N/dh) is not recommended due to the possibility of 25% of the offspring being affected.
  • Affected animals (dh/dh) should not be used for breeding.

Testinformation: This test detects the missense mutation in the FAM20C gene.

Hytönen, M.K., Arumilli, M., Lappalainen, A.K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., Salmela, E., Venta, P., Sarkiala, E., Jokinen, T., Gorgas, D., Kere, J., Nieminen, P., Drögemüller, C., Lohi, H. : Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12:e1006037, 2016. Pubmed reference: 27187611. DOI: 10.1371/journal.pgen.1006037.

Further information are available at Online Mendelian Inheritance in Animals.

Breeds affected:

Test #: D348

Samples: Blood, Buccal Swabs

Price: 35 € (excl. VAT)

Time required: 7-10 days

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