{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:52:09Z","timestamp":1753883529004,"version":"3.41.2"},"reference-count":10,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T00:00:00Z","timestamp":1692144000000},"content-version":"vor","delay-in-days":46,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteogenesis imperfecta (OI) is a rare heritable skeletal dysplasia, clinically characterized by abnormal bone fragility and predisposition to fractures. Here, we describe the case of a 30-year-old woman harboring a novel frameshift variant in the COL1A1 gene, causing a mild but characteristic phenotype of type I OI. She has blue sclerae, a medical history of fractures during infancy and puberty, a vertebral fracture at a young age, and joint hypermobility. The mutation, c.108del (p.Pro37GInfs*37), causes a premature stop codon insertion, predicted to lead to an unstable mRNA, with a consequent reduction in type I collagen quantity. At present, little is known about the evolution of this phenotype during pregnancy, lactation, and premenopause, conditions that could increase the risk of fractures. Management of type I OI in a young woman of childbearing potential is problematic because most antiosteoporotic drugs are contraindicated in pregnancy, as discussed in our brief review.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad096","type":"journal-article","created":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T17:46:53Z","timestamp":1692208013000},"source":"Crossref","is-referenced-by-count":1,"title":["A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7843-3716","authenticated-orcid":false,"given":"Sabrina","family":"Berti","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy"},{"name":"Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna , Bologna , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Luppi","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna , Bologna , Italy"},{"name":"Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna , Bologna , Italy"},{"name":"Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3657-2070","authenticated-orcid":false,"given":"Guido","family":"Zavatta","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy"},{"name":"Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna , Bologna , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2023,8,16]]},"reference":[{"issue":"4","key":"2023081617461580700_luad096-B1","doi-asserted-by":"crossref","first-page":"R95","DOI":"10.1530\/EJE-20-0299","article-title":"Osteogenesis imperfecta: an update on clinical features and therapies","volume":"183","author":"Marom","year":"2020","journal-title":"Eur J Endocrinol"},{"issue":"1","key":"2023081617461580700_luad096-B2","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1210\/endrev\/bnab017","article-title":"Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare OI types","volume":"43","author":"Jovanovic","year":"2022","journal-title":"Endocr 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Registers","volume":"154","author":"Lykking","year":"2022","journal-title":"Bone"},{"issue":"10","key":"2023081617461580700_luad096-B6","article-title":"Bisphosphonate therapy for osteogenesis imperfecta","volume":"10","author":"Dwan","year":"2016","journal-title":"Cochrane Database Syst Rev"},{"issue":"1","key":"2023081617461580700_luad096-B7","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s00198-018-4672-9","article-title":"Pregnancy and newborn outcomes after exposure to bisphosphonates: a case-control study","volume":"30","author":"Sokal","year":"2019","journal-title":"Osteoporos Int"},{"issue":"8","key":"2023081617461580700_luad096-B8","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10174","article-title":"Osteogenesis imperfecta: new perspectives from clinical and translational research","volume":"3","author":"Tauer","year":"2019","journal-title":"JBMR 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Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/4\/luad096\/51118568\/luad096.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/4\/luad096\/51118568\/luad096.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T17:47:02Z","timestamp":1692208022000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luad096\/7243256"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,1]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,7,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luad096","relation":{},"ISSN":["2755-1520"],"issn-type":[{"type":"electronic","value":"2755-1520"}],"subject":[],"published-other":{"date-parts":[[2023,7]]},"published":{"date-parts":[[2023,7,1]]},"article-number":"luad096"}}