{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:25:39Z","timestamp":1790807139149,"version":"4.1.0"},"reference-count":35,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81100623"],"award-info":[{"award-number":["81100623"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81570802"],"award-info":[{"award-number":["81570802"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Key Program of Clinical Science","award":["WBYZ2011-873"],"award-info":[{"award-number":["WBYZ2011-873"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1016\/j.cca.2016.06.011","type":"journal-article","created":{"date-parts":[[2016,6,18]],"date-time":"2016-06-18T19:41:21Z","timestamp":1466278881000},"page":"33-39","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta"],"prefix":"10.1016","volume":"460","author":[{"given":"Xiao-jie","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Lv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-wen","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Asan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-wei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-jie","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ou","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-bo","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-ping","family":"Xing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2016.06.011_bb0005","article-title":"Osteogenesis imperfect","author":"Forlino","year":"2015","journal-title":"Lancet"},{"key":"10.1016\/j.cca.2016.06.011_bb0010","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1146\/annurev-genet-110711-155608","article-title":"Recessively inherited forms of osteogenesis imperfect","volume":"46","author":"Byers","year":"2012","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0015","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 imperfect","volume":"25","author":"Rauch","year":"2010","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.cca.2016.06.011_bb0020","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1038\/ejhg.2015.81","article-title":"Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfect","volume":"23","author":"Lindahl","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0025","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1007\/s00223-015-0066-6","article-title":"Osteogenesis imperfecta type I caused by COL1A1 deletions","volume":"98","author":"Bardai","year":"2015","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.cca.2016.06.011_bb0030","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1097\/GIM.0b013e3181f01617","article-title":"Complete COL1A1 allele deletions in osteogenesis imperfecta","volume":"12","author":"van Dijk","year":"2010","journal-title":"Genet. Med."},{"key":"10.1016\/j.cca.2016.06.011_bb0035","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1056\/NEJMcpc1404139","article-title":"Case records of the Massachusetts General Hospital. Case 24-2014. A 27-year-old man with severe osteoporosis and multiple bone fractures","volume":"371","author":"Mannstadt","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.cca.2016.06.011_bb0040","doi-asserted-by":"crossref","first-page":"28617","DOI":"10.1074\/jbc.271.45.28617","article-title":"Alternative splicing in COL1A1 mRNA leads to a partial null allele and two in-frame forms with structural defects in non-lethal osteogenesis imperfecta","volume":"271","author":"Wang","year":"1996","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.cca.2016.06.011_bb0045","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1093\/hmg\/ddn374","article-title":"Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships","volume":"18","author":"Bodian","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0050","doi-asserted-by":"crossref","first-page":"21068","DOI":"10.1074\/jbc.271.35.21068","article-title":"Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix","volume":"271","author":"Mundlos","year":"1996","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.cca.2016.06.011_bb0055","doi-asserted-by":"crossref","first-page":"8398","DOI":"10.1016\/S0021-9258(18)68491-1","article-title":"Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta","volume":"263","author":"Willing","year":"1988","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.cca.2016.06.011_bb0060","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1002\/humu.9430","article-title":"Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV","volume":"27","author":"Pollitt","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2016.06.011_bb0065","first-page":"995","article-title":"De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints","volume":"49","author":"Warburton","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0070","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/j.cell.2010.10.027","article-title":"A human genome structural variation sequencing resource reveals insights into mutational mechanisms","volume":"143","author":"Kidd","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.cca.2016.06.011_bb0075","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.tig.2015.05.010","article-title":"Human structural variation: mechanisms of chromosome rearrangements","volume":"31","author":"Weckselblatt","year":"2015","journal-title":"Trends Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0080","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.ajhg.2011.03.013","article-title":"Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research","volume":"88","author":"Talkowski","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0085","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0082098","article-title":"Bone mineral density of the spine in 11,898 Chinese infants and young children: a cross-sectional study","volume":"8","author":"Xu","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.cca.2016.06.011_bb0090","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.jocd.2007.05.005","article-title":"Normal reference for bone density in healthy Chinese children","volume":"10","author":"Xu","year":"2007","journal-title":"J. Clin. Densitom."},{"key":"10.1016\/j.cca.2016.06.011_bb0095","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1002\/humu.22541","article-title":"A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing","volume":"35","author":"Dong","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2016.06.011_bb0100","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1101\/gr.076166.108","article-title":"Mapping translocation breakpoints by next-generation sequencing","volume":"18","author":"Chen","year":"2008","journal-title":"Genome Res."},{"key":"10.1016\/j.cca.2016.06.011_bb0105","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1136\/jmedgenet-2012-101351","article-title":"Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and\/or congenital malformations","volume":"50","author":"Schluth-Bolard","year":"2013","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0110","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/pd.2215","article-title":"De novo balanced chromosome rearrangements in prenatal diagnosis","volume":"29","author":"Giardino","year":"2009","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.cca.2016.06.011_bb0115","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":"10.1016\/j.cca.2016.06.011_bb0120","doi-asserted-by":"crossref","first-page":"2405","DOI":"10.2353\/ajpath.2010.090704","article-title":"Immature osteoblast lineage cells increase osteoclastogenesis in osteogenesis imperfecta murine","volume":"176","author":"Li","year":"2010","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.cca.2016.06.011_bb0125","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1002\/humu.20511","article-title":"Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation","volume":"28","author":"Bocciardi","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2016.06.011_bb0130","doi-asserted-by":"crossref","first-page":"2504","DOI":"10.1002\/ajmg.a.36122","article-title":"Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion","volume":"161A","author":"Harbuz","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.cca.2016.06.011_bb0135","doi-asserted-by":"crossref","first-page":"36241","DOI":"10.1074\/jbc.M800989200","article-title":"The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission","volume":"283","author":"Dagda","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.cca.2016.06.011_bb0140","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1001\/archneurol.2010.231","article-title":"Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12","volume":"67","author":"Sato","year":"2010","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.cca.2016.06.011_bb0145","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.parkreldis.2015.01.006","article-title":"Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12","volume":"21","author":"Dong","year":"2015","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.cca.2016.06.011_bb0150","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1038\/70493","article-title":"Expansion of a novel CAG trinucleotide repeat in the 5\u2032 region of PPP2R2B is associated with SCA12","volume":"23","author":"Holmes","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0155","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1038\/ng.2202","article-title":"Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration","volume":"44","author":"Chiang","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0160","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1101\/gr.145631.112","article-title":"Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations","volume":"23","author":"Robberecht","year":"2013","journal-title":"Genome Res."},{"key":"10.1016\/j.cca.2016.06.011_bb0165","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/s12881-015-0206-x","article-title":"Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing","volume":"16","author":"Ji","year":"2015","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.cca.2016.06.011_bb0170","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.gene.2014.06.007","article-title":"Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male","volume":"547","author":"Li","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.cca.2016.06.011_bb0175","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s00223-014-9897-9","article-title":"Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer","volume":"95","author":"Rauch","year":"2014","journal-title":"Calcif. Tissue Int."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989811630256X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989811630256X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T18:58:03Z","timestamp":1718650683000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000989811630256X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":35,"alternative-id":["S000989811630256X"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2016.06.011","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2016,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2016.06.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}