{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T00:09:09Z","timestamp":1789776549181,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T00:00:00Z","timestamp":1733961600000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital hypofibrinogenemia, a quantitative fibrinogen disorder, is characterized by abnormally low levels of both functional and antigen fibrinogen. We identified a heterozygous nonsense mutation, p.Arg17Stop, in the fibrinogen B\u03b2 chain of a three\u2010month\u2010old female infant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Coagulation testing, gene analysis, in\u00a0vitro plasmid construction, and functional analyses were conducted to investigate the underlying pathogenic mechanisms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Plasma fibrinogen levels showed decrease in the proband. DNA sequencing of the proband revealed a heterozygous point mutation (c.139C&gt;T) in exon 2 of the FGB gene causing Arg\u2009\u2192\u2009Stop substitution. Human Arg17 was found to be highly conserved. In\u00a0vitro expression analyses indicated that the mutation impacts both the transcription and translation of the FGB gene, subsequently affecting the synthesis and secretion of fibrinogen.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The p.Arg17Stop mutation in the fibrinogen B\u03b2 chain disrupts fibrinogen production and secretion, contributing to hypofibrinogenemia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.25123","type":"journal-article","created":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T12:39:43Z","timestamp":1734007183000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The \u03b2\u2010Chain Mutation p.<scp>Arg17Stop<\/scp> Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia"],"prefix":"10.1002","volume":"38","author":[{"given":"Chen","family":"Qian","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education  Nanning, Guangxi Zhuang Autonomous Region People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoyu","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education  Nanning, Guangxi Zhuang Autonomous Region People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinghui","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education  Nanning, Guangxi Zhuang Autonomous Region People's Republic of 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