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Retinal Dysplasia (RD) / Oculoskeletal Dysplasia (OSD3) - Northern Inuit Dog Type
| Acronym: | RD/OSD3 |
| Gene: | COL9A3 |
| Mutation: | c.700C>T |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: | Sanger sequencing |
Genetics and characteristics
Retinal dysplasia (RD) and Oculoskeletal dysplasia (OSD 3) are both genetic disorders in dogs characterized by skeletal and ocular defects. Both have been previously reported in the Labrador Retriever and Samoyed dog breeds and recently also in the Northern Inuit Dogs (NID). Signs of both diseases may be noticable early in age and they include a short-limbed dwarfism, limb deformities and severe ocular defects. Development of disease in NIDs is a consequence of a nonsense single nucleotide polymorphism in COL9A3, a gene that provides instructions for making collagen type IX. Collagens are an important and widespread family of proteins that strengthen and support connective tissues.
These two types of disorders specific for the Northern Inuit Dogs are inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the diseases to develop. That means NIDs with only one copy of the gene will not develop the disease but can act as carriers of the mutation. Early genetic testing can help identify affected dogs that carry the mutation and prevent their further breeding by proper selection of mating pairs.
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:
Stavinohova, R., Hartley, C., Burmeister, L. M., Ricketts, S. L., Pettitt, L., Tetas Pont, R., Hitti, R. J., Schofield, E., Oliver, J., & Mellersh, C. S. (2019). Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog. PloS one, 14(8), e0220761. https://doi.org/10.1371/journal.pone.0220761
Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, T. N., Pearce-Kelling, S. E., Johnson, J., Aguirre, G. D., & Acland, G. M. (2010). COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mammalian genome : official journal of the International Mammalian Genome Society, 21(7-8), 398–408. https://doi.org/10.1007/s00335-010-9276-4