{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T12:38:36Z","timestamp":1791722316471,"version":"4.3.4"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T00:00:00Z","timestamp":1708387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T00:00:00Z","timestamp":1708387200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hereditas"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected a family with hypofibrinogenemia, and genetics analysis identify a novel pathogenic variants (c.668G\u2009&gt;\u2009C, p.Arg223Thr) in the <jats:italic>FGG<\/jats:italic> gene. And electron microscope observation revealed significant changes in the ultrastructure of fibrin of the proband. Our research expands the phenotypic and genetic spectrum associated with the <jats:italic>FGG<\/jats:italic> gene, which would facilitate in genetic counselling and prenatal genetic diagnosis.<\/jats:p>","DOI":"10.1186\/s41065-024-00313-3","type":"journal-article","created":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T03:02:24Z","timestamp":1708398144000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family"],"prefix":"10.1186","volume":"161","author":[{"given":"Xiaoying","family":"Xie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunkang","family":"Geng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baoqin","family":"Yi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingpu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3710-7882","authenticated-orcid":false,"given":"Jiangcheng","family":"Zuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,20]]},"reference":[{"key":"313_CR1","doi-asserted-by":"publisher","unstructured":"Simurda T, Brunclikova M, Asselta R, Caccia S, Zolkova J, Kolkova Z, et al. Genetic variants in the FGB and FGG genes mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a thrombotic phenotype. Int J Mol Sci. 2020;21(13). https:\/\/doi.org\/10.3390\/ijms21134616.","DOI":"10.3390\/ijms21134616"},{"key":"313_CR2","doi-asserted-by":"publisher","unstructured":"Asselta R, Paraboschi EM, Duga S. Hereditary Hypofibrinogenemia with hepatic storage. Int J Mol Sci. 2020;21(21). https:\/\/doi.org\/10.3390\/ijms21217830.","DOI":"10.3390\/ijms21217830"},{"issue":"8","key":"313_CR3","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1055\/s-0041-1742170","volume":"48","author":"M Richard","year":"2022","unstructured":"Richard M, Celeny D, Neerman-Arbez M. Mutations accounting for congenital Fibrinogen disorders: an update. Semin Thromb Hemost. 2022;48(8):889\u2013903. https:\/\/doi.org\/10.1055\/s-0041-1742170.","journal-title":"Semin Thromb Hemost"},{"key":"313_CR4","doi-asserted-by":"publisher","unstructured":"Brunclikova M, Simurda T, Zolkova J, Sterankova M, Skornova I, Dobrotova M, et al. Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with bleeding and thrombosis. J Clin Med. 2022;11(4). https:\/\/doi.org\/10.3390\/jcm11041083.","DOI":"10.3390\/jcm11041083"},{"key":"313_CR5","doi-asserted-by":"publisher","unstructured":"Korte W, Poon MC, Iorio A, Makris M. Thrombosis in inherited Fibrinogen disorders. Transfusion medicine and hemotherapy: offizielles Organ Der Deutschen Gesellschaft fur transfusionsmedizin und immunhamatologie. 2017;44(2):70\u20136. https:\/\/doi.org\/10.1159\/000452864.","DOI":"10.1159\/000452864"},{"issue":"5","key":"313_CR6","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1111\/jth.13655","volume":"15","author":"A Casini","year":"2017","unstructured":"Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P. Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation. J Thromb Haemostasis: JTH. 2017;15(5):876\u201388. https:\/\/doi.org\/10.1111\/jth.13655.","journal-title":"J Thromb Haemostasis: JTH"},{"issue":"4","key":"313_CR7","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1055\/s-0036-1571340","volume":"42","author":"M Neerman-Arbez","year":"2016","unstructured":"Neerman-Arbez M, de Moerloose P, Casini A. Laboratory and genetic investigation of mutations accounting for congenital Fibrinogen disorders. Semin Thromb Hemost. 2016;42(4):356\u201365. https:\/\/doi.org\/10.1055\/s-0036-1571340.","journal-title":"Semin Thromb Hemost"},{"issue":"4","key":"313_CR8","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1016\/j.bcmd.2015.06.002","volume":"55","author":"J Zhou","year":"2015","unstructured":"Zhou J, Ding Q, Chen Y, Ouyang Q, Jiang L, Dai J, et al. Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. Blood Cells Mol Dis. 2015;55(4):308\u201315. https:\/\/doi.org\/10.1016\/j.bcmd.2015.06.002.","journal-title":"Blood Cells Mol Dis"},{"issue":"8","key":"313_CR9","doi-asserted-by":"publisher","first-page":"1894","DOI":"10.1111\/j.1538-7836.2005.01365.x","volume":"3","author":"MW Mosesson","year":"2005","unstructured":"Mosesson MW. Fibrinogen and fibrin structure and functions. J Thromb Haemostasis: JTH. 2005;3(8):1894\u2013904. https:\/\/doi.org\/10.1111\/j.1538-7836.2005.01365.x.","journal-title":"J Thromb Haemostasis: JTH"},{"issue":"16","key":"313_CR10","doi-asserted-by":"publisher","first-page":"1308","DOI":"10.21037\/atm-21-3207","volume":"9","author":"W Zhou","year":"2021","unstructured":"Zhou W, Huang Y, Wei J, Wang JL, Huang B, Zhou X, et al. A novel fibrinogen \u03b3-chain frameshift mutation, p. Cys365Phefs*41, causing hypofibrinogenemia with bleeding phenotype in a Chinese family. Annals Translational Med. 2021;9(16):1308. https:\/\/doi.org\/10.21037\/atm-21-3207.","journal-title":"Annals Translational Med"},{"issue":"2","key":"313_CR11","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1136\/jclinpath-2016-203862","volume":"70","author":"J Zhou","year":"2017","unstructured":"Zhou J, Ding Q, Wu W, Ouyang Q, Xie Y, Wu X, et al. Dysfibrinogenemia-associated novel heterozygous mutation, Shanghai (FGA c.169_180\u2009+\u20092 Del), leads to N-terminal truncation of fibrinogen A\u03b1 chain and impairs fibrin polymerization. J Clin Pathol. 2017;70(2):145\u201353. https:\/\/doi.org\/10.1136\/jclinpath-2016-203862.","journal-title":"J Clin Pathol"},{"issue":"4","key":"313_CR12","doi-asserted-by":"publisher","first-page":"e22322","DOI":"10.1002\/jcla.22322","volume":"32","author":"L Xiang","year":"2018","unstructured":"Xiang L, Luo M, Yan J, Liao L, Zhou W, Deng X, et al. Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: screening for congenital dysfibrinogenemia. 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Anesth Analg. 2015;121(4):868\u201378. https:\/\/doi.org\/10.1213\/ane.0000000000000859.","journal-title":"Anesth Analg"}],"container-title":["Hereditas"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s41065-024-00313-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s41065-024-00313-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s41065-024-00313-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T03:04:04Z","timestamp":1708398244000},"score":1,"resource":{"primary":{"URL":"https:\/\/hereditasjournal.biomedcentral.com\/articles\/10.1186\/s41065-024-00313-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,20]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["313"],"URL":"https:\/\/doi.org\/10.1186\/s41065-024-00313-3","relation":{},"ISSN":["1601-5223"],"issn-type":[{"value":"1601-5223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,20]]},"assertion":[{"value":"22 September 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 February 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 February 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from all patients or their caregivers for scientific use and publication of article, and the study was approved by the ethics committee of Yichang Yiling People\u2019s Hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All authors approved the final manuscript and the submission to this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that there is no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"9"}}