Should exome sequencing Replace Chromosomal Microarray Analysis in Suspected Skeletal Dysplasias? Lessons from a Case of Osteogenesis Imperfecta

Key Points

• To evaluate the potential of exome sequencing as an alternative to chromosomal microarray for diagnosing conditions like osteogenesis imperfecta.
• Analyzed a new COL1A1 variant related to osteogenesis imperfecta
• Compared the speed and efficiency of exome sequencing and chromosomal microarray
• Assessed the implications for early counseling in low-resource environments
• Exome sequencing provided quicker diagnostic results compared to chromosomal microarray
• Identified a novel glycine substitution variant in COL1A1
• Highlighted the efficiency of exome sequencing for skeletal dysplasia cases in specific settings