Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review

Key Points

• The research aims to explore the complexities of COL1A2 deletions in osteogenesis imperfecta and their implications.
• Reported a novel genomic rearrangement case
• Performed integrated CNV analysis
• Conducted parental studies
• Described a complex and likely unstable COL1A2 deletion
• Highlighted variability in expressivity, including potential perinatal lethality
• Emphasized the importance of accurate recurrence risk counseling