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Osteogenesis Imperfecta SERPINH1 (Dachshund Type)

Osteogenesis Imperfecta SERPINH1 (Dachshund Type)

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Test Overview:

Osteogenesis Imperfecta (OI) is an inherited Collagen disorder. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

Serpin family H member 1 (SERPINH1) on Chromosome 21

Variant Detected:

Base Substitution c.977C>T p.Leu326Pro

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Drögemüller C, et al. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. (2009) PloS genet 5(7); e1000579.

Associated Breed(s):

Dachshund , Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair, Mixed Breed,

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