{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:26:16Z","timestamp":1790807176983,"version":"4.1.0"},"reference-count":57,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T00:00:00Z","timestamp":1620000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["16ek0109135h0002"],"award-info":[{"award-number":["16ek0109135h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a rare connective\u2010tissue disorder characterized by bone fragility. Approximately 90% of all OI cases are caused by variants in COL1A1 or COL1A2. Additionally, IFITM5 variants are responsible for the unique OI type 5. We previously analyzed COL1A1\/2 variants in 22 Japanese families with OI through denaturing high\u2010performance liquid chromatography screening, but our detection rate was low (41%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To expand the genotype\u2010phenotype correlations, we performed a genetic analysis of COL1A1\/2 and IFITM5 in 96 non\u2010consanguineous Japanese OI probands by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of these individuals, 54, 41, and 1 had type 1 (mild), type 2\u20134 (moderate\u2010to\u2010severe), and type 5 phenotypes, respectively. In the mild group, COL1A1 nonsense and splice\u2010site variants were prevalent (n\u00a0=\u00a030 and 20, respectively), but there were also COL1A1 and COL1A2 triple\u2010helical glycine substitutions (n\u00a0=\u00a02 and 1, respectively). In the moderate\u2010to\u2010severe group, although COL1A1 and COL1A2 glycine substitutions were common (n\u00a0=\u00a014 and 18, respectively), other variants were also detected. The single case of type 5 had the characteristic c.\u201014C&gt;T variant in IFITM5.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These results increase our previous detection rate for COL1A1\/2 variants to 99% and provide insight into the genotype\u2010phenotype correlations in OI.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1675","type":"journal-article","created":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T15:23:17Z","timestamp":1620055397000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5253-6569","authenticated-orcid":false,"given":"Yousuke","family":"Higuchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Okayama University Graduate School of Medicine, 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