{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T03:32:40Z","timestamp":1791689560073,"version":"4.3.4"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T00:00:00Z","timestamp":1364169600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,9,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>\u2003<\/jats:title>\n                  <jats:p>COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical characteristics resulting from such mutations have not been characterized in detail. In this study we assessed 86 patients (36 male, 50 female; mean age 13.3 years; range, 0.6 to 54 years) with COL1A1 haploinsufficiency mutations, of whom 70 were aged 21 years or less (\u201cpediatric\u201d patients). Birth history was positive for fracture or long-bone deformity in 12% of patients. The average rate of long-bone fracture (femur, tibia\/fibula, humerus, radius\/ulna) in pediatric patients was 0.62 fractures per year, one-half of which affected the tibia\/fibula. Long-bone fracture rate was negatively associated with age and lumbar spine areal bone mineral density. Vertebral compression fractures were observed in 71% of the 58 pediatric patients who had lateral spine radiographs. The median number of vertebral fractures was higher for females (median 4; range, 0 to 14) than for males (median 1; range, 0 to 8) (p\u2009=\u20090.03). Lumbar spine areal bone mineral density was negatively associated with the severity of vertebral compression fractures, as reflected in the spine deformity index. Scoliosis was present in about 30% of pediatric patients but the Cobb angle was &amp;lt;30 degrees in all cases. The average final height Z-score was \u20131.1, representing a deficit of 8 to 10\u2009cm compared to the general population. In summary, OI patients with COL1A1 haploinsufficiency mutations have high rates of significant skeletal involvement. Systematic follow-up of growing patients with COL1A1 haploinsufficiency mutations including radiographic screening for vertebral compression fractures and scoliosis is warranted.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/jbmr.1942","type":"journal-article","created":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T22:26:57Z","timestamp":1364250417000},"page":"2001-2007","source":"Crossref","is-referenced-by-count":88,"title":["Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in <i>COL1A1<\/i>"],"prefix":"10.1093","volume":"28","author":[{"given":"I Mouna","family":"Ben Amor","sequence":"first","affiliation":[{"name":"Shriners Hospital for Children and McGill UniversityMontrealQuebecCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Roughley","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children and McGill UniversityMontrealQuebecCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis H","family":"Glorieux","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children and McGill UniversityMontrealQuebecCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children and McGill UniversityMontrealQuebecCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,3,25]]},"reference":[{"key":"2024020318354534400_jbmr1942-bib-0001","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","article-title":"Osteogenesis imperfecta","volume":"363","author":"Rauch","year":"2004","journal-title":"Lancet."},{"key":"2024020318354534400_jbmr1942-bib-0002","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/nrendo.2011.81","article-title":"New perspectives on osteogenesis imperfecta","volume":"7","author":"Forlino","year":"2011","journal-title":"Nat Rev Endocrinol."},{"key":"2024020318354534400_jbmr1942-bib-0003","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.20429","article-title":"Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans","volume":"28","author":"Marini","year":"2007","journal-title":"Hum Mutat."},{"key":"2024020318354534400_jbmr1942-bib-0004","first-page":"638","article-title":"Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen","volume":"55","author":"Willing","year":"1994","journal-title":"Am J Hum Genet."},{"key":"2024020318354534400_jbmr1942-bib-0005","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1172\/JCI0214841","article-title":"Killing the messenger: new insights into nonsense-mediated mRNA decay","volume":"109","author":"Byers","year":"2002","journal-title":"J Clin Invest."},{"key":"2024020318354534400_jbmr1942-bib-0006","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1093\/nar\/25.1.181","article-title":"The human type I collagen mutation database","volume":"25","author":"Dalgleish","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"2024020318354534400_jbmr1942-bib-0007","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1093\/nar\/26.1.253","article-title":"The human collagen mutation database 1998","volume":"26","author":"Dalgleish","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"2024020318354534400_jbmr1942-bib-0008","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1359\/jbmr.091109","article-title":"Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta","volume":"25","author":"Rauch","year":"2010","journal-title":"J Bone Miner Res."},{"key":"2024020318354534400_jbmr1942-bib-0009","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence","year":"1979","journal-title":"J Med Genet."},{"key":"2024020318354534400_jbmr1942-bib-0010","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1086\/301689","article-title":"Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations","volume":"62","author":"Korkko","year":"1998","journal-title":"Am J Hum Genet."},{"key":"2024020318354534400_jbmr1942-bib-0011","first-page":"45","article-title":"Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977","volume":"109","author":"Ogden","year":"2002","journal-title":"National Center for Health Statistics version. 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