Peer-reviewed veterinary case report
Chow Chow puppy with fragile bones and multiple fractures from gene
By Quist, Erin M et al.·Published in The Journal of heredity·2018·Department of Veterinary Pathobiology, United States·View original on PubMed →
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Original publication title: Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta.
- Species:
- dog
Plain-English summary
A 5-month-old male Chow Chow was brought to the vet with a fractured left front leg and healing fractures in both back legs. X-rays showed that his bones were unusually fragile, a condition known as osteogenesis imperfecta (OI), which makes bones break easily. Genetic testing identified a specific mutation in a gene related to bone strength that likely caused his condition. Unfortunately, this genetic issue means he will always be at risk for fractures, but with careful management and monitoring, he can still lead a comfortable life.
People also search for: Chow Chow bone disease · dog fractures treatment · osteogenesis imperfecta in dogs
Abstract
Osteogenesis imperfecta (OI) is a genetic disease that occurs in humans and animals. Individuals with OI exhibit signs of extreme bone fragility and osteopenia with frequent fractures and perinatal lethality in severe cases. In this study, we report the clinical diagnosis of OI in a dog and the use of targeted next-generation sequencing to identify a candidate autosomal dominant mutation in the COL1A2 gene. A 5-month-old male Chow Chow was examined with a fractured left humerus and resolving, bilateral femoral fractures. Radiographs revealed generalized osteopenia and bilateral humeral, radial, and femoral fractures. Targeted next-generation sequencing of genes associated with OI in humans (COL1A1, COL1A2, LEPRE1, SERPINH1, and CRTAP) revealed a G>A heterozygous mutation in the splice donor site of exon 18 of the COL1A2 gene (c.936 + 1G>A). The splice donor mutation was not detected among 91 control dogs representing 21 breeds. A comparative analysis of exon 18 and the exon-intron junction further showed that the mutated splice donor site is conserved among vertebrates. Altogether, these findings reveal a candidate autosomal splice donor site mutation causing OI in an individual Chow Chow.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/29036614/