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. This is a severe form of the disease.

Gene name

COL1A2

Inheritance

Autosomal dominant

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

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Radiographs and laboratory tests may be needed to diagnose this condition. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Campbell BG, Wootton JA, Macleod JN, Minor RR. Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha2(I) and severe osteogenesis imperfecta. J Bone Miner Res. 2001 Jun;16(6):1147-53. doi: 10.1359/jbmr.2001.16.6.1147. PMID: 11393792.

Quist EM, Doan R, Pool RR, Porter BF, Bannasch DL, Dindot SV. Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta. J Hered. 2018 Mar 16;109(3):308-314. doi: 10.1093/jhered/esx074. PMID: 29036614.

Letko A, Zdora I, Hitzler V, Jagannathan V, Beineke A, Möhrke C, Drögemüller C. A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta. Anim Genet. 2019 Dec;50(6):786-787. doi: 10.1111/age.12843. Epub 2019 Aug 29. PMID: 31468557.

Disclaimer

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