{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T12:28:55Z","timestamp":1759580935104},"reference-count":6,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T00:00:00Z","timestamp":1428537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Ministry of Health, Labour and Welfare of Japan","award":["Jitsuyoka (Nanbyo)-Ippan-014 (23300102)"],"award-info":[{"award-number":["Jitsuyoka (Nanbyo)-Ippan-014 (23300102)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label \/><jats:p>Most cases of osteogenesis imperfecta (OI) are caused by heterozygous mutations in <jats:italic>COL1A1<\/jats:italic> or <jats:italic>COL1A2<\/jats:italic>, the genes encoding the two type I procollagen alpha chains, pro\u03b11 (I) and pro\u03b12 (I). We report on a unique case of severe OI, a long term survivor of lethal type II OI, rather than progressively deforming type III, due to double substitutions of glycine residues in <jats:italic>COL1A2<\/jats:italic> (p.Gly208Glu and p.Gly235Asp), located on the same allele. To the best of our knowledge, this is the first example of a patient with double <jats:italic>COL1A2<\/jats:italic> glycine substitution mutations on the same allele. We show for the first time that double <jats:italic>COL1A2<\/jats:italic> glycine substitution mutations located near the amino\u2010terminal triple helical region, which individually are likely to result in mild OI, cause severe OI in combination. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37051","type":"journal-article","created":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T23:05:27Z","timestamp":1428620727000},"page":"1627-1631","source":"Crossref","is-referenced-by-count":5,"title":["Severe osteogenesis imperfecta caused by double glycine substitutions near the amino\u2010terminal triple helical region in <i>COL1A2<\/i>"],"prefix":"10.1002","volume":"167","author":[{"given":"Masaki","family":"Takagi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"},{"name":"Department of Endocrinology and Metabolism Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Shinohara","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Narumi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Radiology Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukihiro","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bb.20.060191.001033"},{"key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"2667","DOI":"10.1016\/S0021-9258(18)53826-6","article-title":"Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology","volume":"268","author":"Marini JC","year":"1993","journal-title":"J Biol Chem"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340112"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/420794"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"25162","DOI":"10.1016\/S0021-9258(19)74583-9","article-title":"Two additional cases of osteogenesis imperfecta with substitutions for glycine in the \u03b12 (I) collagen chain. A regional model relating mutation location with phenotype","volume":"268","author":"Wang Q","year":"1993","journal-title":"J Biol Chem"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37051","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37051","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:51:16Z","timestamp":1696607476000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,9]]},"references-count":6,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1002\/ajmg.a.37051"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37051","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,9]]}}}