Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow with Osteogenesis Imperfecta

Erin M. Quist, Ryan Doan, Roy R. Pool, Brian F. Porter, Danika L. Bannasch, Scott V. Dindot

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)308-314
Number of pages7
JournalJournal of Heredity
Issue number3
StatePublished - Mar 16 2018
Externally publishedYes


  • Chow Chow
  • COL1A2
  • dog
  • osteogenesis imperfect
  • sequencing
  • targeted next-generation

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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