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Pathogenic mutations were identified, phenotypic information was collected, and relationships between genotypes and phenotypes were analyzed. Literature about western OI cohorts was searched, and differences were compared between eastern and western OI cohorts.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>A total of 560 OI patients were identified as carrying OI pathogenic mutations, and the positive detection rate of disease-causing gene mutations was 83.5%. Mutations in 15 OI candidate genes were identified, with <jats:italic>COL1A1<\/jats:italic> (<jats:italic>n\u2009=\u2009<\/jats:italic>308, 55%) and <jats:italic>COL1A2<\/jats:italic> (<jats:italic>n\u2009=\u2009<\/jats:italic>164, 29%) being the most common mutations, and <jats:italic>SERPINF1<\/jats:italic> and <jats:italic>WNT1<\/jats:italic> being the most common biallelic variants. Of the 414 probands, 48.8, 16.9, 29.2 and 5.1% had OI types I, III, IV and V, respectively. Peripheral fracture was the most common phenotype (96.6%), and femurs (34.7%) were most commonly affected. Vertebral compression fracture was observed in 43.5% of OI patients. Biallelic or <jats:italic>COL1A2<\/jats:italic> mutation led to more bone deformities and poorer mobility than <jats:italic>COL1A1<\/jats:italic> mutation (all <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05). Glycine substitution of <jats:italic>COL1A1<\/jats:italic> or <jats:italic>COL1A2<\/jats:italic> or biallelic variants led to more severe phenotypes than haploinsufficiency of collagen type I \u03b1 chains, which induced the mildest phenotypes. Although the gene mutation spectrum varied among countries, the fracture incidence was similar between eastern and western OI cohorts.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The findings are valuable for accurate diagnosis and treatment of OI, mechanism exploration and prognosis judgment. Genetic profiles of OI may vary among races, but the mechanism needs to be explored.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s40618-023-02123-2","type":"journal-article","created":{"date-parts":[[2023,6,4]],"date-time":"2023-06-04T05:01:29Z","timestamp":1685854889000},"page":"67-77","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Genotype\u2013phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta"],"prefix":"10.1007","volume":"47","author":[{"given":"X.","family":"Lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Q.","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Xing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7270-4902","authenticated-orcid":false,"given":"M.","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,6,4]]},"reference":[{"key":"2123_CR1","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1210\/endrev\/bnab017","volume":"43","author":"M Jovanovic","year":"2022","unstructured":"Jovanovic M, Guterman-Ram G, Marini JC (2022) Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare OI types. 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