{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:26:13Z","timestamp":1790807173578,"version":"4.1.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T00:00:00Z","timestamp":1614038400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T00:00:00Z","timestamp":1614038400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Osteoporos Int"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1007\/s00198-021-05838-1","type":"journal-article","created":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T17:10:06Z","timestamp":1614100206000},"page":"1239-1244","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype"],"prefix":"10.1007","volume":"32","author":[{"given":"I. N.","family":"Choksi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6803-4456","authenticated-orcid":false,"given":"A.","family":"Cox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4813-6356","authenticated-orcid":false,"given":"C.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Bale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1328-6768","authenticated-orcid":false,"given":"T. O.","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,23]]},"reference":[{"issue":"12","key":"5838_CR1","doi-asserted-by":"publisher","first-page":"3150","DOI":"10.1002\/ajmg.a.37958","volume":"170","author":"RC Pollitt","year":"2016","unstructured":"Pollitt RC, Saraff V, Dalton A, Webb EA, Shaw NJ, Sobey GJ, Mughal MZ, Hobson E, Ali F, Bishop NJ, Arundel P, H\u00f6gler W, Balasubramanian M (2016) Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations. Am J Med Genet A 170(12):3150\u20133156. https:\/\/doi.org\/10.1002\/ajmg.a.37958","journal-title":"Am J Med Genet A"},{"issue":"2","key":"5838_CR2","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1007\/s00198-013-2485-4","volume":"25","author":"M Bayer","year":"2013","unstructured":"Bayer M (2013) Reference values of osteocalcin and procollagen type I N-propeptide plasma levels in a healthy central European population aged 0\u201318 years. Osteoporos Int 25(2):729\u2013736. https:\/\/doi.org\/10.1007\/s00198-013-2485-4","journal-title":"Osteoporos Int"},{"issue":"3","key":"5838_CR3","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1210\/jc.2009-2057","volume":"95","author":"BS Zemel","year":"2018","unstructured":"Zemel BS, Leonard MB, Kelly A, Lappe JM, Gilsanz V, Oberfield S, Mahboubi S, Shepherd JA, Hangartner TN, Frederick MM, Winer KK, Kalkwarf HJ (2018) Height adjustment in assessing dual energy x-ray absorptiometry measurements of bone mass and density in children. J Clin Endocrinol Metab 95(3):1265\u20131273. https:\/\/doi.org\/10.1210\/jc.2009-2057","journal-title":"J Clin Endocrinol Metab"},{"key":"5838_CR4","doi-asserted-by":"publisher","unstructured":"Hulmes DJS (2019) Roles of the procollagen C-propeptides in health and disease. Adams J, ed. Essays Biochem 63(3):313\u2013323. https:\/\/doi.org\/10.1042\/ebc20180049","DOI":"10.1042\/ebc20180049"},{"issue":"7","key":"5838_CR5","doi-asserted-by":"publisher","first-page":"1341","DOI":"10.1242\/jcs.01731","volume":"118","author":"EG Canty","year":"2005","unstructured":"Canty EG (2005) Procollagen trafficking, processing and fibrillogenesis. J Cell Sci 118(7):1341\u20131353. https:\/\/doi.org\/10.1242\/jcs.01731","journal-title":"J Cell Sci"},{"issue":"5","key":"5838_CR6","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1515\/bc.2007.054","volume":"388","author":"C Wermter","year":"2007","unstructured":"Wermter C, H\u00f6wel M, Hintze V, Bombosch B, Aufenvenne K, Yiallouros I, St\u00f6cker W (2007) The protease domain of procollagen C-proteinase (BMP1) lacks substrate selectivity, which is conferred by non-proteolytic domains. Biol Chem 388(5):513\u2013521. https:\/\/doi.org\/10.1515\/bc.2007.054","journal-title":"Biol Chem"},{"issue":"8","key":"5838_CR7","doi-asserted-by":"publisher","first-page":"1445","DOI":"10.1002\/jbmr.2473","volume":"30","author":"D Syx","year":"2015","unstructured":"Syx D, Guillemyn B, Symoens S, Sousa AB, Medeira A, Whiteford M, Hermanns-L\u00ea T, Coucke PJ, De Paepe A, Malfait F (2015) Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta. J Bone Miner Res 30(8):1445\u20131456. https:\/\/doi.org\/10.1002\/jbmr.2473","journal-title":"J Bone Miner Res"},{"key":"5838_CR8","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1016\/j.jprot.2016.02.031","volume":"138","author":"C-W Hung","year":"2016","unstructured":"Hung C-W, Koudelka T, Anastasi C, Becker A, Moali C, Tholey A (2016) Characterization of post-translational modifications in full-length human BMP-1 confirms the presence of a rare vicinal disulfide linkage in the catalytic domain and highlights novel features of the EGF domain. J Proteome 138:136\u2013145. https:\/\/doi.org\/10.1016\/j.jprot.2016.02.031","journal-title":"J Proteome"},{"issue":"7","key":"5838_CR9","doi-asserted-by":"publisher","first-page":"1260","DOI":"10.1002\/jbmr.3424","volume":"33","author":"T Cundy","year":"2018","unstructured":"Cundy T, Dray M, Delahunt J, Hald JD, Langdahl B, Li C, Szybowska M, Mohammed S, Duncan EL, McInerney-Leo AM, Wheeler PG, Roschger P, Klaushofer K, Rai J, Weis MA, Eyre D, Schwarze U, Byers PH (2018) Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype. J Bone Miner Res 33(7):1260\u20131271. https:\/\/doi.org\/10.1002\/jbmr.3424","journal-title":"J Bone Miner Res"},{"issue":"4","key":"5838_CR10","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1016\/j.ajhg.2012.02.026","volume":"90","author":"PV Asharani","year":"2012","unstructured":"Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altm\u00fcller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Sch\u00f6nau E, Wirth R, Hammerschmidt M, N\u00fcrnberg P, Wollnik B, Carney TJ (2012) Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet 90(4):661\u2013674. https:\/\/doi.org\/10.1016\/j.ajhg.2012.02.026","journal-title":"Am J Hum Genet"},{"key":"5838_CR11","doi-asserted-by":"publisher","unstructured":"Mart\u00ednez-Glez V, Valencia M, Caparr\u00f3s-Mart\u00edn JA, Aglan M, Temtamy S, Tenorio J, Pulido V, Lindert U, Rohrbach M, Eyre D, Giunta C, Lapunzina P, Ruiz-Perez VL (2011) Identification of a mutation causing deficient BMP1\/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat 33(2):343\u2013350. https:\/\/doi.org\/10.1002\/humu.21647","DOI":"10.1002\/humu.21647"},{"key":"5838_CR12","doi-asserted-by":"publisher","unstructured":"Valencia M, Caparr\u00f3s-Martin JA, Sirerol-Piquer MS, Garc\u00eda-Verdugo JM, Mart\u00ednez-Glez V, Lapunzina P, Temtamy S, Aglan M, Lund AM, Nikkels PGJ, Ruiz-Perez VL, Ostergaard E (2014) Report of a newly identified patient with mutations in BMP1 and underlying pathogenetic aspects. Am J Med Genet A 164(5):1143\u20131150. https:\/\/doi.org\/10.1002\/ajmg.a.36427","DOI":"10.1002\/ajmg.a.36427"},{"issue":"2","key":"5838_CR13","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1093\/hmg\/ddu471","volume":"24","author":"S Fahiminiya","year":"2014","unstructured":"Fahiminiya S, Al-Jallad H, Majewski J, Palomo T, Moffatt P, Roschger P, Klaushofer K, Glorieux FH, Rauch F (2014) A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children. Hum Mol Genet 24(2):516\u2013524. https:\/\/doi.org\/10.1093\/hmg\/ddu471","journal-title":"Hum Mol Genet"},{"key":"5838_CR14","doi-asserted-by":"publisher","unstructured":"Cho SY, Asharani PV, Kim O-H, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK (2015) Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. Hum Mutat 36(2):191\u2013195. https:\/\/doi.org\/10.1002\/humu.22731","DOI":"10.1002\/humu.22731"},{"key":"5838_CR15","doi-asserted-by":"publisher","unstructured":"Sangsin A, Kuptanon C, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V (2017) Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report. BMC Med Genet 18(1):25. https:\/\/doi.org\/10.1186\/s12881-017-0384-9","DOI":"10.1186\/s12881-017-0384-9"},{"key":"5838_CR16","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.cca.2018.11.004","volume":"489","author":"X Xu","year":"2019","unstructured":"Xu X, Lv F, Song Y, Li LJ, Asan, Wei XX, Zhao XL, Jiang Y, Wang O, Xing XP, Xia WB, Li M (2019) Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta. Clin Chim Acta 489:21\u201328. https:\/\/doi.org\/10.1016\/j.cca.2018.11.004","journal-title":"Clin Chim Acta"},{"key":"5838_CR17","doi-asserted-by":"publisher","first-page":"1496","DOI":"10.1002\/jbmr.3143","volume":"32","author":"FH Glorieux","year":"2017","unstructured":"Glorieux FH, Devogelaer J-P, Durigova M, Goemaere S, Hemsley S, Jakob F, Junker U, Ruckle J, Seefried L, Winkle PJ (2017) BPS804 anti-sclerostin antibody in adults with moderate osteogenesis imperfecta: results of a randomized phase 2a trial. J Bone Miner Res 32:1496\u20131504. https:\/\/doi.org\/10.1002\/jbmr.3143","journal-title":"J Bone Miner Res"},{"key":"5838_CR18","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1007\/s11914-018-0434-z","volume":"16","author":"LM Ward","year":"2018","unstructured":"Ward LM, Rauch F (2018) Anabolic therapy for the treatment of osteoporosis in childhood. Curr Osteoporos Rep 16:269\u2013276. https:\/\/doi.org\/10.1007\/s11914-018-0434-z","journal-title":"Curr Osteoporos Rep"}],"container-title":["Osteoporosis International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00198-021-05838-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00198-021-05838-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00198-021-05838-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T16:09:53Z","timestamp":1621267793000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00198-021-05838-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,23]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["5838"],"URL":"https:\/\/doi.org\/10.1007\/s00198-021-05838-1","relation":{},"ISSN":["0937-941X","1433-2965"],"issn-type":[{"value":"0937-941X","type":"print"},{"value":"1433-2965","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,23]]},"assertion":[{"value":"6 October 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 January 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 February 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Ishani N Choksi declares no conflict of interest or competing interests. Allison Cox declares no conflict of interest or competing interests. Cemre Robinson declares no conflict of interest or competing interests. Allen Bale declares no conflict of interest or competing interests. Thomas O Carpenter has consulted for Regeneron, Inozyme, Kirin, and Ultragenyx.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This report was prepared in accordance with ethical guidelines of the Yale Human Investigation Committee.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval (include appropriate approvals or waivers)"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate (include appropriate statements)"}},{"value":"Not applicable.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication (include appropriate statements)"}},{"value":"Not applicable","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code availability"}}]}}