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Osteogenesis Imperfecta (Beagle Type)

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Test Overview:

Osteogenesis Imperfecta (Beagle Type) affects dogs and is an inherited Collagen disorder. Dogs affected with this disorder can typically present with pain, lameness and fractures between 3 to 4 weeks of age. Osteogenesis Imperfecta is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected animals are thinner than normal, fracture easily and do not heal properly. Additional features of the disorder include loose joints and brittle teeth. Affected puppies may die shortly after birth and be smaller than their littermates. Due to the severity of the disease, puppies with Osteogenesis Imperfecta are usually euthanised by 3 months of age.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

COL1A2

Variant Detected:

chr14:19918265-19918268 (canFam3): 4 bp deletion (del CTGA), 9 bp insertion (ins TGTCATTGG)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Dominant

Recommended Screening:

Genetic testing of the COL1A2 gene will reliably determine if a dog is a genetic carrier of osteogenesis imperfecta (beagle type).

Research Citation(s):

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. [PubMed: 11393792]

Associated Breed(s):

Beagle, Beaglier,

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