{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:21:30Z","timestamp":1740162090674,"version":"3.37.3"},"reference-count":29,"publisher":"Georg Thieme Verlag KG","issue":"03","license":[{"start":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T00:00:00Z","timestamp":1723593600000},"content-version":"vor","delay-in-days":44,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"National Key Research and Development Program of China","award":["2018YFC1002900"],"award-info":[{"award-number":["2018YFC1002900"]}]},{"name":"National Key Research and Development Program of China","award":["2018YFC1002903"],"award-info":[{"award-number":["2018YFC1002903"]}]},{"name":"National Key Research and Development Program of China","award":["2021YFC2701504"],"award-info":[{"award-number":["2021YFC2701504"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["AJP Rep"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Introduction\u2003Osteogenesis imperfecta (OI) is the most common monogenic inherited skeletal dysplasia disorder. Mutations in the COL1A1\/COL1A2 gene cause \u223c85 to 90% of OI. Studies of cases have demonstrated that missense mutations are the primary cause of OI, with poor prognosis.<\/jats:p><jats:p>\n          Case Description\u2003We report the case of a fetus with skeletal abnormalities and subcutaneous edema. Ultrasound imaging revealed suspected skeletal malformations, including hypoplastic long bones of all four limbs, poorly ossified calvarium, unrevealing nasal bones, and generalized subcutaneous edema. Whole-exome sequencing revealed a heterozygous mutation in COL1A1 (c.2174G\u2009&gt;\u2009T\/p.(G725V), NM_000088.3). According to the American College of Medical Genetics and Genomics guidelines, it was determined to be a pathogenic variant and identified as a de novo variant (PS2\u2009+\u2009PP3_strong\u2009+\u2009PM2_supporting), which has not been reported in the HGMD, gnomAD, ClinVar, or other databases. This variation causes a glycine-to-valine substitution at position 725, located within the Gly-Xaa-Yaa repeat in the helical domain of the collagen molecule.<\/jats:p><jats:p>\n          Conclusion\u2003The COL1A1 mutation (c.2174G\u2009&gt;\u2009T\/p.(G725V), NM_000088.3) is a novel pathogenic variant of severe OI. Our study expanded the OI COL1A1 gene variation profiles in the Chinese population and provided a theoretical foundation for prenatal diagnosis, genetic counseling, and obstetric management.<\/jats:p>","DOI":"10.1055\/a-2388-3190","type":"journal-article","created":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T23:10:51Z","timestamp":1723677051000},"page":"e215-e223","source":"Crossref","is-referenced-by-count":0,"title":["A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature"],"prefix":"10.1055","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3056-6617","authenticated-orcid":false,"given":"Yurong","family":"Lu","sequence":"additional","affiliation":[{"name":"Cheeloo College of Medicine, Shandong University, Jinan, Shandong, People's Republic of China"},{"name":"Department of Obstetrics and Gynecology, Shandong Provincial Hospital, Shandong First Medical University, Jinan, Shandong, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yijia","family":"Tian","sequence":"additional","affiliation":[{"name":"Cheeloo College of Medicine, Shandong University, Jinan, Shandong, People's Republic of China"},{"name":"Department of Obstetrics and Gynecology, Shandong Provincial Hospital, Shandong First Medical University, Jinan, Shandong, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinxiu","family":"Liu","sequence":"additional","affiliation":[{"name":"Testing Center, Yinfeng Medical Laboratory, Jinan, Shandong, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yifan","family":"Wang","sequence":"additional","affiliation":[{"name":"Testing Center, Yinfeng Medical Laboratory, Jinan, Shandong, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xietong","family":"Wang","sequence":"additional","affiliation":[{"name":"Cheeloo College of Medicine, Shandong University, Jinan, Shandong, People's Republic of China"},{"name":"Department of Obstetrics and Gynecology, Shandong Provincial Hospital, Shandong First Medical University, Jinan, Shandong, People's Republic of China"},{"name":"Key Laboratory of Birth Regulation and Control Technology of National Health Commission of China, Shandong Provincial Maternal and Child Health Care Hospital, Qingdao University, Jinan, Shandong, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,9,12]]},"reference":[{"issue":"06","key":"ref1","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.ajog.2018.07.017","article-title":"Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia","volume":"219","author":"R Savarirayan","year":"2018","journal-title":"Am J Obstet Gynecol"},{"issue":"07","key":"ref2","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1002\/jbmr.1982","article-title":"Osteogenesis imperfecta, an ever-expanding conundrum","volume":"28","author":"F H Glorieux","year":"2013","journal-title":"J Bone Miner Res"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"A Forlino","year":"2016","journal-title":"Lancet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"J C Marini","year":"2017","journal-title":"Nat Rev Dis Primers"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"D O Sillence","year":"1979","journal-title":"J Med Genet"},{"issue":"06","key":"ref6","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1097\/01.gim.0000223557.54670.aa","article-title":"Genetic evaluation of suspected osteogenesis imperfecta (OI)","volume":"8","author":"P H Byers","year":"2006","journal-title":"Genet Med"},{"issue":"8498","key":"ref7","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0140-6736(86)91609-0","article-title":"Osteogenesis imperfecta is linked to both type I collagen structural genes","volume":"2","author":"B Sykes","year":"1986","journal-title":"Lancet"},{"volume-title":"COL1A1\/2 Osteogenesis imperfecta","year":"2005","author":"R D Steiner","key":"ref8"},{"issue":"07","key":"ref9","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":"R Pollitt","year":"2006","journal-title":"Hum Mutat"},{"issue":"23","key":"ref10","doi-asserted-by":"crossref","first-page":"7509","DOI":"10.1021\/ja801670v","article-title":"Synthetic collagen heterotrimers: structural mimics of wild-type and mutant collagen type I","volume":"130","author":"V Gauba","year":"2008","journal-title":"J Am Chem Soc"},{"issue":"03","key":"ref11","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1007\/s00774-020-01163-5","article-title":"Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta","volume":"39","author":"L Xi","year":"2021","journal-title":"J Bone Miner Metab"},{"issue":"07","key":"ref12","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1038\/s41431-019-0373-x","article-title":"Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients","volume":"27","author":"M Maioli","year":"2019","journal-title":"Eur J Hum Genet"},{"issue":"01","key":"ref13","doi-asserted-by":"crossref","first-page":"79","DOI":"10.18388\/abp.2017_1612","article-title":"Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III","volume":"65","author":"A Augusciak-Duma","year":"2018","journal-title":"Acta Biochim Pol"},{"issue":"03","key":"ref14","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":"J C Marini","year":"2007","journal-title":"Hum Mutat"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"935905","DOI":"10.3389\/fendo.2022.935905","article-title":"Comparing clinical and genetic characteristics of de novo and inherited COL1A1\/COL1A2 variants in a large Chinese cohort of osteogenesis imperfecta","volume":"13","author":"Y Mei","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"03","key":"ref16","doi-asserted-by":"crossref","first-page":"e559","DOI":"10.1002\/mgg3.559","article-title":"De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta","volume":"7","author":"L Zhytnik","year":"2019","journal-title":"Mol Genet Genomic Med"},{"issue":"02","key":"ref17","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1007\/s00247-016-3725-5","article-title":"Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality","volume":"47","author":"K S Milks","year":"2017","journal-title":"Pediatr Radiol"},{"issue":"05","key":"ref18","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1002\/uog.23722","article-title":"Extended genetic testing in fetuses with sonographic skeletal system abnormalities","volume":"59","author":"A Kuci\u0144ska-Chahwan","year":"2022","journal-title":"Ultrasound Obstet Gynecol"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.matbio.2018.03.010","article-title":"Osteogenesis imperfecta and therapeutics","volume":"71-72","author":"R Morello","year":"2018","journal-title":"Matrix Biol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.metabol.2017.06.001","article-title":"Osteogenesis imperfecta - a clinical update","volume":"80","author":"S Tournis","year":"2018","journal-title":"Metabolism"},{"issue":"02","key":"ref21","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s12041-019-1099-9","article-title":"Co-occurrence of heterozygous mutations in COL1A1 and SERPINF1 in a high-risk pregnancy complicated by osteogenesis imperfecta","volume":"98","author":"Y Ji","year":"2019","journal-title":"J Genet"},{"issue":"05","key":"ref22","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1177\/1093526616686903","article-title":"Novel COL1A1 mutation c.3290G>T associated with severe form of osteogenesis imperfecta in a fetus","volume":"20","author":"L Tanner","year":"2017","journal-title":"Pediatr Dev Pathol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.cca.2021.02.024","article-title":"A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model","volume":"517","author":"H Huang","year":"2021","journal-title":"Clin Chim Acta"},{"issue":"02","key":"ref24","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1111\/cge.13976","article-title":"Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: a retrospective cohort study","volume":"100","author":"L Zhang","year":"2021","journal-title":"Clin Genet"},{"issue":"09","key":"ref25","doi-asserted-by":"crossref","first-page":"2","DOI":"10.3390\/genes13091578","article-title":"Prenatal cases reflect the complexity of the COL1A1\/2 associated osteogenesis imperfecta","volume":"13","author":"K Yang","year":"2022","journal-title":"Genes (Basel)"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"816090","DOI":"10.3389\/fped.2022.816090","article-title":"Identification of a rare variant of c. 1777G>A (p.G593S) in the COL1A1 gene as the etiology of recurrent osteogenesis imperfecta by whole-exome sequencing","volume":"10","author":"J Zhuang","year":"2022","journal-title":"Front Pediatr"},{"issue":"07","key":"ref27","doi-asserted-by":"crossref","first-page":"e09819","DOI":"10.1016\/j.heliyon.2022.e09819","article-title":"Application of whole exome sequencing in fetal cases with skeletal abnormalities","volume":"8","author":"J Cao","year":"2022","journal-title":"Heliyon"},{"issue":"03","key":"ref28","doi-asserted-by":"crossref","first-page":"e1105","DOI":"10.1002\/mgg3.1105","article-title":"Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese","volume":"8","author":"R Li","year":"2020","journal-title":"Mol Genet Genomic Med"},{"issue":"04","key":"ref29","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1007\/s00438-022-01899-x","article-title":"Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system","volume":"297","author":"Y Yang","year":"2022","journal-title":"Mol Genet Genomics"}],"container-title":["American Journal of Perinatology Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2388-3190.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T15:53:47Z","timestamp":1730822027000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2388-3190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":29,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2024,7,19]]},"published-print":{"date-parts":[[2024,7]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2388-3190","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2157-6998","2157-7005"],"issn-type":[{"type":"print","value":"2157-6998"},{"type":"electronic","value":"2157-7005"}],"subject":[],"published-other":{"date-parts":[[2024,8,14]]},"published":{"date-parts":[[2024,7]]}}}