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Here, we present an overview of the genetic heterogeneity and pathophysiological background of OI as well as OI-related bone fragility disorders and highlight current therapeutic options.<\/jats:p><jats:p>The most common form of OI is caused by mutations in the two collagen type I genes. Stop mutations usually lead to reduced collagen amount resulting in a mild phenotype, while missense mutations mainly provoke structural alterations in the collagen protein and entail a more severe phenotype. Numerous other causal genes have been identified during the last decade that are involved in collagen biosynthesis, modification and secretion, the differentiation and function of osteoblasts, and the maintenance of bone homeostasis.<\/jats:p><jats:p>Management of patients with OI involves medical treatment by bisphosphonates as the most promising therapy to inhibit bone resorption and thereby facilitate bone formation. Surgical treatment ensures pain reduction and healing without an increase of deformities. Timely remobilization and regular strengthening of the muscles by physiotherapy are crucial to improve mobility, prevent muscle wasting and avoid bone resorption caused by immobilization. Identification of the pathomechanism for <jats:italic>SERPINF1<\/jats:italic> mutations led to the development of a tailored mechanism-based therapy using denosumab, and unraveling further pathomechanisms will likely open new avenues for innovative treatment approaches.<\/jats:p>","DOI":"10.1186\/s40348-020-00101-9","type":"journal-article","created":{"date-parts":[[2020,8,14]],"date-time":"2020-08-14T13:07:05Z","timestamp":1597410425000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":75,"title":["Osteogenesis imperfecta\u2014pathophysiology and therapeutic options"],"prefix":"10.1186","volume":"7","author":[{"given":"Julia","family":"Etich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lennart","family":"Le\u00dfmeier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirko","family":"Rehberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helge","family":"Sill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Zaucke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Netzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0029-7556","authenticated-orcid":false,"given":"Oliver","family":"Semler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,8,14]]},"reference":[{"issue":"4","key":"101_CR1","first-page":"372","volume":"31","author":"M Rehberg","year":"2019","unstructured":"Rehberg M, Etich J, Le\u00dfmeier L, Sill H, Netzer C, Semler O (2019) Osteogenesis imperfecta \u2013 Pathophysiologie und aktuelle Behandlungsstrategien. 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Some content of the paper has been published by the same authors in a paper in german language recently (Rehberg M, Etich J, Le\u00dfmeier L, Sill H, Netzer C, Semler O. Osteogenesis imperfecta\u2014Pathophysiologie und aktuelle Behandlungsstrategien. medizinische genetik. 2019;31(4):372-82.)","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors state that no conflict of interests exists.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"9"}}