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OI is now understood as a collagen-related disorder caused by defects of genes whose protein products interact with collagen for folding, post-translational modification, processing and trafficking, affecting bone mineralization and osteoblast differentiation. This review provides the latest updates on genetics of OI, including new developments in both dominant and rare OI forms, as well as the signaling pathways involved in OI pathophysiology. There is a special emphasis on discoveries of recessive mutations in\n TENT5A<\/jats:italic>\n ,\n MESD<\/jats:italic>\n ,\n KDELR2<\/jats:italic>\n and\n CCDC134<\/jats:italic>\n whose causality of OI types XIX, XX, XXI and XXI, respectively, is now established and expends the complexity of mechanisms underlying OI to overlap LRP5\/6 and MAPK\/ERK pathways. We also review in detail new discoveries connecting the known OI types to each other, which may underlie an eventual understanding of a final common pathway in OI cellular and bone biology.\n <\/jats:p>","DOI":"10.1007\/s00223-024-01266-5","type":"journal-article","created":{"date-parts":[[2024,8,11]],"date-time":"2024-08-11T06:01:49Z","timestamp":1723356109000},"page":"891-914","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":71,"title":["Update on the Genetics of Osteogenesis Imperfecta"],"prefix":"10.1007","volume":"115","author":[{"given":"Milena","family":"Jovanovic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan C.","family":"Marini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,11]]},"reference":[{"key":"1266_CR1","doi-asserted-by":"crossref","unstructured":"Marini JC, Cabral WA (2018) Osteogenesis imperfecta. 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