Description: Osteogenesis imperfecta (OI) is a hereditary disease affecting wire-haired and smooth-haired dachshunds. The disease is manifested by thinning of bones and teeth. Clinical signs appear already in puppies during the first 3 months of life. OI is also known as brittle bone disease; it is a genetic disorder of collagen type I production – the main protein component of connective tissue. The highly organized structure of its fibrils stabilizes the tissue of bones, ligaments, tendons, and teeth. Affected individuals therefore show extreme bone fragility with an increased risk of fractures, osteopenia, reduced mobility, joint pain, or skeletal deformities. Secondary manifestations of the disease also include dentinogenesis imperfecta (glass teeth), hearing loss, blue discoloration of the sclera or dwarfism. In some cases, the bone pathology is limited to one long bone, in more severe forms (for example, in dachshunds), newborn puppies develop multiple spontaneous fractures of long bones and often have a delayed growth curve compared to healthy littermates.
OI has been described in humans and domesticated animal species such as dogs, cats, cattle and sheep, but also tigers in captivity. These are either autosomal dominant mutations in the COL1A1 and COL1A2 genes identified in various breeds, including golden retrievers, beagles, chow chows, Italian water dogs (Lagotto Romagnolo), or an autosomal recessive mutation in the SERPINH1 gene described in dachshunds.
SERPINH1 (serpin peptidase inhibitor, collagen binding protein 1) is also known as the gene encoding the molecular chaperone HSP47 (heat-shock protein 47), essential for the biosynthesis of procollagens I-V in mammalian cells.
Inheritance: autosomal recessive
Mutation: c.977C>T in SERPINH1 gene, chr21:23033735 (canFam3): T>C
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: All types of dachshunds, especially wire-haired and smooth-haired Dachshund
Notes: Autosomal dominant mutations in the COL1A1 and COL1A2 genes have also been described and identified in various breeds, including Golden Retrievers, Beagles, Chow Chows, Italian Water Dogs (Lagotto Romagnolo)