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Osteogenesis Imperfecta (Golden Retriever Type)
Test Overview:
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 stabilises 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.
Category:
Musculoskeletal - Associated with muscles, bones and associated structures
Gene:
Collagen type I alpha 1 chain (COL1A1) Chromosome 9
Variant Detected:
Base Substitution c.1276G>C p.Gly381Ala
Severity:
Low. This disease generally causes mild signs of disease, or can be quite easily treated/managed.
Mode of Inheritance:
Autosomal Dominant
Research Citation(s):
Campbell B.G, et al. Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta. (2000) Arch Biochem Biophys, 384(1);37-46.
Associated Breed(s):
Golden Retriever, Goldendoodle, Groodle, Mixed Breed,
