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