Osteogenesis Imperfecta SERPINH1 (Dachshund Type) Overview
Osteogenesis Imperfecta SERPINH1 (Dachshund Type)
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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: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
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.
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 Long Hair, Miniature Dachshund Smooth Hair, Mixed Breed, Miniature Dachshund Wire Hair,