A 235 Kb deletion at 17q21.33 encompassing the COL1A1 and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report

摘要

Osteogenesis imperfecta (OI) is a rare group of disorders characterized by increased susceptibility to fractures due to genetically determined bone fragility. About 90% of cases are due to mutations in (17q21.33) or (7q21.3) resulting in quantitative or qualitative defects in type I collagen, a key structural constituent of bone. OI due to complete deletion is rare.