{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:09Z","timestamp":1784557029744,"version":"3.55.0"},"reference-count":18,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,7,1]]},"abstract":"Summary<\/jats:title>\n \n A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absorptiometry (DEXA) bone scanning confirmed low bone mass for her age in the lumbar spine (\n Z<\/jats:italic>\n -score was \u22122.6). However, despite these classical clinical features, the diagnosis of OI had not been entertained throughout the whole of her childhood. Sequencing of her genomic DNA revealed that she was heterozygous for the c.3880_3883dup mutation in exon 50 of the\n COL1A1<\/jats:italic>\n gene. This mutation is predicted to result in a frameshift at p.Thr1295, and truncating stop codon 3 amino acids downstream. To our knowledge, this mutation has not previously been reported in OI.\n <\/jats:p>\n \n Learning points<\/jats:title>\n \n \n \n OI is a rare but important genetic metabolic bone and connective tissue disorder that manifests a diverse clinical phenotype that includes recurrent low-impact fractures.<\/jats:p>\n <\/jats:list-item>\n \n \n Most mutations that underlie OI occur within exon 50 of the\n COL1A1<\/jats:italic>\n gene (coding for protein constituents of type 1 pro-collagen).\n <\/jats:p>\n <\/jats:list-item>\n \n The diagnosis of OI is easily missed in its mild form. Early diagnosis is important, and there is a need for improved awareness of OI among health care professionals.<\/jats:p>\n <\/jats:list-item>\n \n \n OI is a diagnosis of exclusion, although the key diagnostic criterion is through genetic testing for mutations within the\n COL1A1<\/jats:italic>\n gene.\n <\/jats:p>\n <\/jats:list-item>\n \n Effective management of OI should be instituted through a multidisciplinary team approach that includes a bone specialist (usually an endocrinologist or rheumatologist), a geneticist, an audiometrist and a genetic counsellor. Physiotherapy and orthopaedic surgery may also be required.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/edm-13-0002","type":"journal-article","created":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T10:24:22Z","timestamp":1372933462000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta"],"prefix":"10.1530","volume":"2013","author":[{"given":"S A S","family":"Aftab","sequence":"first","affiliation":[{"name":"Division of Metabolic and Vascular HealthClinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Reddy","sequence":"additional","affiliation":[{"name":"Division of Metabolic and Vascular HealthClinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N L","family":"Owen","sequence":"additional","affiliation":[{"name":"Division of Metabolic and Vascular HealthClinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Pollitt","sequence":"additional","affiliation":[{"name":"1Connective Tissue Disorders ServiceSheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Harte","sequence":"additional","affiliation":[{"name":"Division of Metabolic and Vascular HealthClinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P G","family":"McTernan","sequence":"additional","affiliation":[{"name":"Division of Metabolic and Vascular HealthClinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Tripathi","sequence":"additional","affiliation":[{"name":"Division of Metabolic and Vascular HealthClinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T M","family":"Barber","sequence":"additional","affiliation":[{"name":"Division of Metabolic and Vascular HealthClinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref111","first-page":"367","article-title":"Current and emerging treatments for the management of osteogenesis imperfecta","volume":"6","year":"2010","journal-title":"Journal of Therapeutics and Clinical Risk Management"},{"key":"ref01","first-page":"1655","article-title":"Case report: osteogenesis imperfecta elusive cause of fractures","volume":"51","year":"2005","journal-title":"Canadian Family Physician M\u00e9decin de Famille Canadien"},{"key":"ref101","first-page":"1655","article-title":"Case report: osteogenesis imperfecta elusive cause of fractures","volume":"51","year":"2005","journal-title":"Canadian Family Physician M\u00e9decin de Famille Canadien"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1002\/lary.20155","article-title":"Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta","volume":"119","year":"2009","journal-title":"Laryngoscope"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"18218","DOI":"10.1016\/S0021-9258(17)46833-5","article-title":"Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta","volume":"268","year":"1993","journal-title":"Journal of Biological Chemistry"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1097\/GIM.0b013e318202e0f6","article-title":"Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance","volume":"13","year":"2011","journal-title":"Genetics in Medicine"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ejhg.2011.141","article-title":"EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta","volume":"20","year":"2012","journal-title":"European Journal of Human Genetics"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s11154-008-9074-4","article-title":"Osteogenesis imperfecta: update on presentation and management","volume":"9","year":"2008","journal-title":"Reviews in Endocrine & Metabolic Disorders"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1097\/GIM.0b013e318202e0f6","article-title":"Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance","volume":"13","year":"2011","journal-title":"Genetics in Medicine"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s11657-011-0054-z","article-title":"Bone mass, bone markers and prevalence of fractures in adults with osteogenesis imperfecta","volume":"6","year":"2011","journal-title":"Archives of Osteoporosis"},{"key":"ref11","first-page":"367","article-title":"Current and emerging treatments 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best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta","volume":"20","year":"2012","journal-title":"European Journal of Human Genetics"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"18218","DOI":"10.1016\/S0021-9258(17)46833-5","article-title":"Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta","volume":"268","year":"1993","journal-title":"Journal of Biological Chemistry"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s11657-011-0054-z","article-title":"Bone mass, bone markers and prevalence of fractures in adults with osteogenesis imperfecta","volume":"6","year":"2011","journal-title":"Archives of Osteoporosis"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1002\/lary.20155","article-title":"Audiometric, surgical, and genetic findings in 15 ears of patients with 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