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Osteogenesis Imperfecta Golden Retriever Type (OI)
| Acronym: | OI |
| Gene: | COL1A1 |
| Mutation: | c.1145G>C |
| Inheritance: | Autosomal dominant |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Osteogenesis imperfecta Golden Retriever type (OI) is a hereditary disease characterized by extremely fragile bones and teeth caused by defects in the structure of collagen I, a major protein component in connective tissue, and of the extracellular matrix of bone. The highly ordered structure of its fibrils stabilizes the tissue of bones, teeth, ligaments, and sinews. The osteogenesis imperfecta phenotype ranges from mild bone fragility to perinatal death due to innumerable fractures and severe deformity. The osteogenesis imperfecta is sometimes also accompanied by blue sclera dentinogenesis imperfecta known as glassy teeth, hearing loss, dwarfism, pulmonary complications and other problems. Young animals are mostly affected during the first few weeks of life.
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. |
AFFECTED HETEROZYGOTE |
Tested mutation was detected in animal with „affected heterozygote“ result. Animal tested as affected heterozygote has one wild-type and one mutation allele, it is in heterozygous state. It is likely to 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.
**Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Campbell, B.G., Wootton, J.A.M., MacLeod, J.N., and Minor, R.R. (2000). Sequence of Normal Canine COL1A1 cDNA and Identification of a Heterozygous α1(I) Collagen Gly208AIa Mutation in a Severe Case of Canine Osteogenesis Imperfecta. Archives of Biochemistry and Biophysics 384, 37–46.
Eckardt, J., Kluth, S., Dierks, C., Philipp, U., and Distl, O. (2013). Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet. Rec. 172, 364.
Seeliger, F., Leeb, T., Peters, M., Brügmann, M., Fehr, M., and Hewicker-Trautwein, M. (2003). Osteogenesis Imperfecta in Two Litters of Dachshunds. Vet Pathol 40, 530–539.