{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T07:55:20Z","timestamp":1769068520090,"version":"3.49.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T00:00:00Z","timestamp":1762992000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Guangxi Zhuang Autonomous Region Health Commission","award":["Z-A20240413"],"award-info":[{"award-number":["Z-A20240413"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Congenital hypofibrinogenemia is a genetic disorder caused by defects in the fibrinogen gene. We identified a case of congenital hypofibrinogenemia with mutations in the FGA, FGB, and FGG genes associated with bleeding risk and conducted experimental studies to explore the condition\u2019s pathogenesis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>To investigate the bleeding risk in the proband, we performed coagulation screening and genetic analysis, supplemented by sodium dodecyl sulfate polyacrylamide gel electrophoresis, electron microscopy, sequence conservation analysis, and thromboelastography to elucidate the pathogenic mechanism.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fibrinogen levels in the proband\u2019s plasma were measured by 3 methods: 0.81\u00a0g\/L (Clauss assay), 0.95\u00a0g\/L (prothrombin time derived), and 0.87\u00a0g\/L (enzyme-linked immunosorbent assay). The proband and her father had c.37T\u2005&amp;gt;\u2005C (p.Tyr13His) in the FGG gene; c.959-16_959-13delTTTG deletion mutation, c.567C\u2005&amp;gt;\u2005T (p.Ser189=), c.1125C\u2005&amp;gt;\u2005T (p.Tyr375=), c.1433G\u2005&amp;gt;\u2005A (p.Arg478Lys), and c.1433G\u2005&amp;gt;\u2005A (p.Arg478Lys) in the FGB gene; and c.991A\u2005&amp;gt;\u2005G (p.Thr331Ala) in the FGA gene. Scanning electron microscope analysis showed that the proband\u2019s fibrin fibers were fine, with a loose spatial structure and increased pore size.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>The c.959-16_959-13delTTTG deletion is the main cause of congenital hypofibrinogenemia in this family. The \u03b3Tyr13His heterozygous mutation may have a minor impact on the structure and function of the fibrinogen molecule. The B\u03b2(Ser189=, Tyr375=, Arg478Lys) and A\u03b1Thr331Ala mutations may have a certain impact on the proband\u2019s clinical phenotype.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/labmed\/lmaf042","type":"journal-article","created":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T07:23:16Z","timestamp":1750058596000},"source":"Crossref","is-referenced-by-count":0,"title":["Congenital hypofibrinogenemia with bleeding risk: mutations in the\n                    <i>FGA, FGB<\/i>\n                    , and\n                    <i>FGG<\/i>\n                    genes"],"prefix":"10.1093","volume":"57","author":[{"given":"Yangyang","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaili","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liqun","family":"Xiang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meiling","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weijie","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]},{"name":"Clinical Laboratory, The People\u2019s Hospital of Baise , Baise ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faquan","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University,\u00a0Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education , Nanning ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,11,13]]},"reference":[{"key":"2026012111415287800_CIT0001","doi-asserted-by":"publisher","first-page":"109134","DOI":"10.1016\/j.thromres.2024.109134","article-title":"Regulation of fibrinogen synthesis","volume":"242","author":"Dobson","year":"2024","journal-title":"Thromb Res."},{"key":"2026012111415287800_CIT0002","doi-asserted-by":"publisher","first-page":"132","DOI":"10.3390\/ijms23010132","article-title":"Extension of the human fibrinogen database with detailed clinical information-The \u03b1C-Connector Segment","volume":"23","author":"Sovova","year":"2021","journal-title":"Int J Mol Sci ."},{"key":"2026012111415287800_CIT0003","doi-asserted-by":"publisher","first-page":"3005","DOI":"10.1016\/j.jtha.2023.08.014","article-title":"Fibrinogen and fibrin: synthesis, structure, and function in health and disease","volume":"21","author":"Wolberg","year":"2023","journal-title":"J Thromb Haemost."},{"key":"2026012111415287800_CIT0004","doi-asserted-by":"publisher","first-page":"1700","DOI":"10.1182\/blood-2010-08-300301","article-title":"Fibrinopeptides A and B release in the process of surface fibrin formation","volume":"117","author":"Riedel","year":"2011","journal-title":"Blood."},{"key":"2026012111415287800_CIT0005","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1160\/TH14-07-0629","article-title":"Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency","volume":"113","author":"Asselta","year":"2015","journal-title":"Thromb Haemost."},{"key":"2026012111415287800_CIT0006","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1111\/j.1749-6632.2001.tb03535.x","article-title":"Fibrinogen biosynthesis. Assembly, intracellular degradation, and association with lipid synthesis and secretion","volume":"936","author":"Redman","year":"2001","journal-title":"Ann N Y Acad Sci."},{"key":"2026012111415287800_CIT0007","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1007\/978-3-319-49674-0_13","article-title":"Fibrin formation, structure and properties","volume":"82","author":"Weisel","year":"2017","journal-title":"Subcell Biochem."},{"key":"2026012111415287800_CIT0008","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1517\/14712598.8.7.979","article-title":"Treatment of congenital fibrinogen disorders","volume":"8","author":"de Moerloose","year":"2008","journal-title":"Expert Opin Biol Ther."},{"key":"2026012111415287800_CIT0009","doi-asserted-by":"publisher","first-page":"119680","DOI":"10.1016\/j.cca.2024.119680","article-title":"Guideline for diagnosis and management of congenital dysfibrinogenemia","volume":"561","author":"Yan","year":"2024","journal-title":"Clin Chim Acta."},{"key":"2026012111415287800_CIT0010","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1080\/16078454.2021.1893977","article-title":"Congenital dysfibrinogenemia caused by \u03b3Ala327Val mutation: structural abnormality of D region","volume":"26","author":"Wei","year":"2021","journal-title":"Hematology"},{"key":"2026012111415287800_CIT0011","doi-asserted-by":"publisher","first-page":"1549","DOI":"10.1111\/ijlh.13632","article-title":"The \u03b2-chain mutation p.Trp433Stop impairs fibrinogen secretion: a novel nonsense mutation associated with hypofibrinogenemia","volume":"43","author":"Yan","year":"2021","journal-title":"Int J Lab Hematol."},{"key":"2026012111415287800_CIT0012","doi-asserted-by":"publisher","first-page":"1597","DOI":"10.3390\/ijms19061597","article-title":"Human fibrinogen: molecular and genetic aspects of congenital disorders","volume":"19","author":"Tiscia","year":"2018","journal-title":"Int J Mol Sci ."},{"key":"2026012111415287800_CIT0013","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.thromres.2018.10.018","article-title":"A novel fibrinogen gamma-chain mutation, p.Cys165Arg, causes disruption of the \u03b3165Cys-B\u03b2227Cys disulfide bond and ultimately leads to hypofibrinogenemia","volume":"172","author":"Zhou","year":"2018","journal-title":"Thromb Res."},{"key":"2026012111415287800_CIT0014","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1055\/s-0036-1571339","article-title":"Clinical features and management of congenital fibrinogen deficiencies","volume":"42","author":"Casini","year":"2016","journal-title":"Semin Thromb Hemost."},{"key":"2026012111415287800_CIT0015","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1055\/s-0029-1225758","article-title":"Congenital fibrinogen disorders","volume":"35","author":"de Moerloose","year":"2009","journal-title":"Semin Thromb Hemost."},{"key":"2026012111415287800_CIT0016","doi-asserted-by":"publisher","first-page":"1076029620912819","DOI":"10.1177\/1076029620912819","article-title":"Women with congenital hypofibrinogenemia\/afibrinogenemia: from birth to death","volume":"26","author":"Zhang","year":"2020","journal-title":"Clin Appl Thromb Hemost."},{"key":"2026012111415287800_CIT0017","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1177\/1076029615594003","article-title":"Hypofibrinogenemia and the \u03b1-fibrinogen Thr312Ala polymorphism may be risk factors for early pregnancy loss","volume":"23","author":"Kamimoto","year":"2017","journal-title":"Clin Appl Thromb Hemost."},{"key":"2026012111415287800_CIT0018","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1161\/CIRCGENETICS.108.825273","article-title":"Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women\u2019s Genome Health Study","volume":"2","author":"Danik","year":"2009","journal-title":"Circ Cardiovasc Genet"},{"key":"2026012111415287800_CIT0019","doi-asserted-by":"publisher","first-page":"3120","DOI":"10.1093\/hmg\/ddac100","article-title":"Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors","volume":"31","author":"Pankratz","year":"2022","journal-title":"Hum Mol Genet."},{"key":"2026012111415287800_CIT0020","doi-asserted-by":"crossref","first-page":"2117","DOI":"10.1182\/blood.V82.7.2117.2117","article-title":"Human fibrinogen polymorphic site analysis by restriction endonuclease digestion and allele-specific polymerase chain reaction amplification: identification of polymorphisms at positions A alpha 312 and B beta 448","volume":"82","author":"Baumann","year":"1993","journal-title":"Blood."},{"key":"2026012111415287800_CIT0021","doi-asserted-by":"publisher","first-page":"2326","DOI":"10.1161\/01.CIR.0000066690.89407.CE","article-title":"Functional analysis of the fibrinogen Aalpha Thr312Ala polymorphism: effects on fibrin structure and function","volume":"107","author":"Standeven","year":"2003","journal-title":"Circulation."},{"key":"2026012111415287800_CIT0022","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1182\/blood-2007-05-091231","article-title":"Common variation in the C-terminal region of the fibrinogen beta-chain: effects on fibrin structure, fibrinolysis and clot rigidity","volume":"111","author":"Ajjan","year":"2008","journal-title":"Blood."},{"key":"2026012111415287800_CIT0023","doi-asserted-by":"publisher","first-page":"1325","DOI":"10.1016\/j.cca.2010.05.030","article-title":"In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A&gt;G causing abnormal RNA splicing","volume":"411","author":"Terasawa","year":"2010","journal-title":"Clin Chim Acta."},{"key":"2026012111415287800_CIT0024","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1111\/ijlh.12827","article-title":"Congenital dysfibrinogenaemia assessed by whole blood thromboelastography","volume":"40","author":"Wei","year":"2018","journal-title":"Int J Lab Hematol."},{"key":"2026012111415287800_CIT0025","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1111\/j.1365-2257.2005.00681.x","article-title":"Thrombelastography\/thromboelastometry","volume":"27","author":"Luddington","year":"2005","journal-title":"Clin Lab Haematol."},{"key":"2026012111415287800_CIT0026","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1046\/j.1365-2141.2000.01993.x","article-title":"Prenatal and peripartum management of congenital afibrinogenaemia","volume":"109","author":"Kobayashi","year":"2000","journal-title":"Br J Haematol."},{"key":"2026012111415287800_CIT0027","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1002\/ajh.20802","article-title":"Retrochorionic hematoma in congenital afibrinogenemia: resolution with fibrinogen concentrate infusions","volume":"82","author":"Ayg\u00f6ren-P\u00fcrs\u00fcn","year":"2007","journal-title":"Am J Hematol."},{"key":"2026012111415287800_CIT0028","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1002\/ajh.20110","article-title":"Pregnancy-related thrombosis in a woman with congenital afibrinogenemia: a report of two successful pregnancies","volume":"76","author":"Roqu\u00e9","year":"2004","journal-title":"Am J Hematol."},{"key":"2026012111415287800_CIT0029","doi-asserted-by":"publisher","first-page":"1634","DOI":"10.1111\/j.1538-7836.2006.02014","article-title":"Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia","volume":"4","author":"Peyvandi","year":"2006","journal-title":"J Thromb Haemost."}],"container-title":["Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/labmed\/article-pdf\/57\/1\/lmaf042\/65286943\/lmaf042.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/labmed\/article-pdf\/57\/1\/lmaf042\/65286943\/lmaf042.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T16:41:58Z","timestamp":1769013718000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/labmed\/article\/doi\/10.1093\/labmed\/lmaf042\/8322707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,13]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1,7]]}},"URL":"https:\/\/doi.org\/10.1093\/labmed\/lmaf042","relation":{},"ISSN":["0007-5027","1943-7730"],"issn-type":[{"value":"0007-5027","type":"print"},{"value":"1943-7730","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026]]},"published":{"date-parts":[[2025,11,13]]},"article-number":"lmaf042"}}