Peer-reviewed veterinary case report
Severe brittle bone disease in a 2-month-old kitten caused by gene
By Takanosu, Masamine & Kagawa, Yumiko·Published in Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·2022·Nasunogahara Animal Clinic, Japan·View original on PubMed →
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Original publication title: Severe osteogenesis imperfecta caused bymutation in a cat.
- Species:
- cat
Plain-English summary
A 2-month-old kitten was brought in because it was growing slowly and had an unusual way of walking. The vet found that the kitten had weak bones, with some fractures in its legs, which led to a diagnosis of osteogenesis imperfecta, a condition that makes bones fragile. Tests revealed a genetic mutation that likely caused the kitten's bone problems by affecting collagen production, which is essential for strong bones. Unfortunately, this condition is serious and can lead to ongoing health issues, so the kitten will need special care and monitoring.
People also search for: kitten growth problems · osteogenesis imperfecta in cats · cat bone fractures treatment
Abstract
We examined the clinical features and pathology, and identified the causative mutation, of osteogenesis imperfecta in a 2-mo-old kitten with growth retardation and abnormal gait. Blood and radiographic examinations were performed on presentation. Radiographs revealed decreased opacity of numerous bones. Fractures were observed in some long bones, including femur and tibia. Histologic examination of the tibia showed decreased osteoid and osteoblasts at the primary spongiosa extending from the growth plate. The periosteum was thickened, and cortical bone and osteoblasts were decreased. Consequently, osteogenesis imperfecta was diagnosed. Genomic DNA and total RNA were extracted from the skin and used for PCR. Whole-genome sequencing identified a 2-bp deletion (c.370_371delTG; p.C124fs), which resulted in a homozygous frameshift mutation on exon 3 of. This mutation introduced a premature stop codon, suggesting production of the truncated protein without a functional domain as a transcription factor for expression ofmRNA. This error may have affected collagen fibril formation, leading to the development of osteogenesis imperfecta.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/35168412/