骨研究ジャーナル
オープンアクセス

概要

骨形成不全症の遺伝学的根拠、新たな治療法、研究の展望

カランディープ・カウル、シャリーニ・ディマン、マハク・ガーグ、イヌシャ・パニグラヒ*

Osteogenesis Imperfecta (OI) is a group of genetic skeletal disorders of connective tissues with fragile bones resulting in recurrent fractures. It can present in antenatal period, early childhood or adulthood, which caused by abnormal synthesis of collagen, abnormal bone matrix and weak bones. Multiple genes are implicated in pathohysiology and causation of OI. We describe here the different phenotypic features in OI, the genes and variants identified in various studies in children and adults, the management options available and the research done in osteoporosis including osteogenesis imperfecta.