Severe Osteogenesis Imperfecta

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Osteogenesis Imperfecta (OI) or Brittle Bones Disease

Description:

Osteogenesis Imperfecta is an inherited autosomal recessive disease also known as canine brittle bone disease. The genetic mutation impairs the normal development of collagen, which causes bones and teeth to be thin and brittle. Although bones are of normal length, they can break or fracture easily due to low bone density. Once an injury occurs, healing can be slow or incomplete.

 

In addition to brittle teeth and bone fractures, symptoms of OI can also include loose joints, weak muscles and tendons, a curved spine, and hearing loss. In severe cases, an affected pup will have to be euthanized.

 

While Osteogenesis Imperfecta is most commonly associated with Dachshunds, the disease has also been detected in Golden Retrievers and Beagles.

Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at test now.

Test Is Relevant To the Following Breeds:

Beagles

Additional Tests For Beagles:

Primary Open Angle Glaucoma (POAG)

Factor VII Deficiency (FVII)

Imerslund-Grasbeck Syndrome (IGS) or Selective Cobalamin Malabsorption

Pyruvate Kinase Deficiency (PKD)

Musladin-Leuke Syndrome (MLS)

Neonatal Cerebellar Cortical Degeneration (NCCD)

Combination panel (OI) (POAG) (FVII) (IGS) (PKD) (MLS) (NCCD)

Results:

Animal Genetics offers DNA testing for Osteogenesis Imperfecta (OI). The genetic test verifies the presence of the recessive COL1A2 variant in the pro-alpha2(I) gene and presents results as one of the following:

OI/OI Affected The dog carries two copies of the OI mutation and is homozygous for OI. The dog is affected and will always pass a copy of the mutated gene to its offspring.
OI/n Carrier Both the normal and mutant variants detected. Dog is a carrier for OI and can pass on a copy of the defective gene to its offspring.
n/n Clear Dog tested negative for the OI mutation and will not pass on the defective gene to its offspring.

References:

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.