title: Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.
abstract: Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology. Here, we summarize the literature that has contributed to our current understanding of the pathogenesis of OI.
authors.affiliation: Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Md.
authors.forename: Heeseog
authors.initials: H
authors.lastname: Kang
authors.affiliation: Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Md.
authors.forename: Smriti
authors.initials: S
authors.lastname: Aryal A C
authors.affiliation: Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Md. Electronic address: oidoc@helix.nih.gov.
authors.forename: Joan C
authors.initials: JC
authors.lastname: Marini
mesh_terms: D002113:Calcification, Physiologic; D024042:Collagen Type I / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D008954:Models, Biological; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics*
chemical_list: D024042:Collagen Type I