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Osteogenesis imperfecta in Holstein-Friesian calves
J S Agerholm1, A M Lund, B Bloch
1National Veterinary Laboratory, University Hospital, Royal Veterinary and Agricultural University, Copenhagen, Denmark.
Zentralblatt Fur Veterinarmedizin. Reihe A
|March 1, 1994
Summary
Osteogenesis imperfecta in calves was likely caused by a new dominant mutation in a bull, affecting collagen fibril size. This genetic defect resulted in severe bone fragility and other developmental issues in affected calves.
Area of Science:
- Veterinary Genetics
- Animal Pathology
- Biochemistry
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder affecting bone development.
- The inheritance patterns and specific genetic causes of OI in cattle are not fully understood.
- Holstein-Friesian cattle are a significant dairy breed worldwide.
Purpose of the Study:
- To investigate the cause of multiple cases of osteogenesis imperfecta in a Danish Holstein-Friesian herd.
- To characterize the clinical and pathological features of affected calves.
- To explore the potential genetic basis, possibly a de novo mutation.
Main Methods:
- Clinical and necropsy examinations of affected calves.
- Histopathological and electron microscopical analysis of skin, bone, tendon, and ligament tissues.
- Biochemical analysis of collagen type I from skin and bone.
Main Results:
- Eight calves with OI were identified over two years, all sired by a single, seemingly normal bull.
- Affected calves exhibited multiple fractures, bone deformities, joint laxity, dentinogenesis imperfecta, and blue sclerae.
- Electron microscopy showed reduced collagen fibril diameters in skin, tendons, and ligaments, but biochemical analysis of collagen type I was normal.
Conclusions:
- The OI cases were likely caused by a de novo dominant mutation exhibiting gonadal mosaicism in the sire.
- The mutation affects collagen fibril structure, leading to severe skeletal fragility and associated defects.
- Further genetic investigation is warranted to identify the specific mutation responsible for this condition.