Disease overview

Osteogenesis imperfecta is an inherited disease that affects the cartilage of the bone. Type I collagen, a protein component in connective tissue, gives bones their flexibility and is important for proper joint function. Defects in the structure of type I collagen leads to teeth and bones that are extremely fragile and brittle, as well as joint pain and hyperflexibility.

Gene name

SERPINH1

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs include the presence of multiple bone fractures, joint hyperlaxity (excessive joint movement), and dentinogenesis imperfecta ("glassy teeth"). Fractures to bones and damage to fragile teeth can occur from even the mildest of trauma through what would be considered normal play for other dogs. Tooth enamel is thin, resulting in teeth that are translucent and brittle. Teeth often have a pink coloration, as the underlying blood vessels are exposed through the thin enamel. Signs are typically present as early as 3 to 4 weeks of age.

How is it diagnosed

Osteogenesis imperfecta is diagnosed by a veterinarian through a thorough examination of the dog and the presence of clinical signs. Laboratory tests and radiographs may be warranted. Genetic testing assists veterinarians with diagnosis and helps breeders identify presence of gene mutation among breeding stock.

Breeds at higher risk

, especially wire-hair/rough-coated Dachshunds

Citations

Drögemüller C, Becker D, Brunner A, Haase B, Kircher P, Seeliger F, Fehr M, Baumann U, Lindblad-Toh K, Leeb T. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet. 2009 Jul;5(7):e1000579. doi: 10.1371/journal.pgen.1000579. Epub 2009 Jul 24. PMID: 19629171; PMCID: PMC2708911. Seeliger F, Leeb T, Peters M, Brugmann M, Fehr M, Hewicker-Trautwein M. Osteogenesis imperfecta in two litters of dachshunds. Vet Pathol. 2003 Sep;40(5):530-9. doi: 10.1354/vp.40-5-530. PMID: 12949410.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.