Peer-reviewed veterinary case report
Cat with brittle bones and fractures but no bone deformity due
By Takanosu, Masamine et al.·Published in Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·2026·Nasunogahara Animal Clinic, Japan·View original on PubMed →
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Original publication title: Missense mutation ofmay cause feline osteogenesis imperfecta without bone deformity.
- Species:
- cat
Plain-English summary
A 3-month-old domestic shorthair cat was brought to the vet after suffering multiple fractures, but X-rays showed no deformities in the bones. A biopsy revealed some unusual bone growth patterns, and genetic testing found a specific mutation linked to a condition similar to osteogenesis imperfecta (a disorder that makes bones fragile). This mutation might disrupt how the cat's body processes collagen, which is important for strong bones. The cat's condition highlights a genetic cause for its fractures, but further research is needed to understand the best treatment options.
People also search for: kitten multiple fractures · cat bone disease · feline osteogenesis imperfecta treatment
Abstract
A 3-mo-old domestic shorthair cat was presented with multiple fractures. Bone morphology was normal radiographically, with no long bone deformity or increased bone translucency. A bone biopsy from the ilium was examined histologically, revealing that bone matrix in the trabeculae extended from the growth plate, but cartilage remained in the distal trabeculae. Osteoblasts were observed at the bone surface via immunohistochemical detection with an anti-RUNX2 antibody. Whole-genome sequencing identified a homozygous missense mutation (valine to methionine) in the zinc-dependent metalloprotease domain of, a gene associated with human osteogenesis imperfecta type 13. In silico analysis predicted that this mutation would disrupt BMP1 protein function, which could affect type I collagen processing. Our findings suggest that a missense mutation inmay cause feline osteogenesis imperfecta.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/41562138/