{"title":"FGB基因的杂合无义突变（c.1299G > A）导致连续四代的先天性纤维蛋白原紊乱。","authors":"Wanling Chen, Jiasheng Hu","doi":"10.1186/s12959-025-00746-4","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to elucidate the molecular abnormalities in a four-generation Chinese family affected by congenital fibrinogen disorder (CFD).</p><p><strong>Case presentation: </strong>The proband was a 5-year-old Chinese boy with CFD. Routine clotting tests revealed decreased plasma fibrinogen concentration in the proband and in his father and sister. Notably, the condition presented was clinically asymptomatic. Whole exome sequencing identified a heterozygous c.1299G > A mutation in exon 8 of the FGB gene, leading to p.Trp433* (TGG > TGA). Further Sanger sequencing revealed the presence of this mutation in his great-grandmother, grandfather, father, and sister as well.</p><p><strong>Conclusion: </strong>The FGB gene variant c.1299G > A (p.Trp433*) across four consecutive generations is associated with CFD.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"23 1","pages":"63"},"PeriodicalIF":2.6000,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12160101/pdf/","citationCount":"0","resultStr":"{\"title\":\"A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.\",\"authors\":\"Wanling Chen, Jiasheng Hu\",\"doi\":\"10.1186/s12959-025-00746-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>The aim of this study was to elucidate the molecular abnormalities in a four-generation Chinese family affected by congenital fibrinogen disorder (CFD).</p><p><strong>Case presentation: </strong>The proband was a 5-year-old Chinese boy with CFD. Routine clotting tests revealed decreased plasma fibrinogen concentration in the proband and in his father and sister. Notably, the condition presented was clinically asymptomatic. Whole exome sequencing identified a heterozygous c.1299G > A mutation in exon 8 of the FGB gene, leading to p.Trp433* (TGG > TGA). Further Sanger sequencing revealed the presence of this mutation in his great-grandmother, grandfather, father, and sister as well.</p><p><strong>Conclusion: </strong>The FGB gene variant c.1299G > A (p.Trp433*) across four consecutive generations is associated with CFD.</p>\",\"PeriodicalId\":22982,\"journal\":{\"name\":\"Thrombosis Journal\",\"volume\":\"23 1\",\"pages\":\"63\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2025-06-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12160101/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Thrombosis Journal\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s12959-025-00746-4\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Thrombosis Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12959-025-00746-4","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
背景：本研究的目的是阐明一个中国四代人先天性纤维蛋白原紊乱（CFD）家族的分子异常。病例介绍：先证者是一名患有CFD的5岁中国男孩。常规凝血试验显示先证者及其父亲和妹妹血浆纤维蛋白原浓度降低。值得注意的是，所提出的条件是临床无症状。全外显子测序发现FGB基因第8外显子存在c.1299G > a杂合突变，导致p.Trp433* (TGG > TGA)。进一步的桑格测序显示，他的曾祖母、祖父、父亲和妹妹也存在这种突变。结论：FGB基因4代变异c.1299G > A （p.Trp433*）与CFD有关。
A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.
Background: The aim of this study was to elucidate the molecular abnormalities in a four-generation Chinese family affected by congenital fibrinogen disorder (CFD).
Case presentation: The proband was a 5-year-old Chinese boy with CFD. Routine clotting tests revealed decreased plasma fibrinogen concentration in the proband and in his father and sister. Notably, the condition presented was clinically asymptomatic. Whole exome sequencing identified a heterozygous c.1299G > A mutation in exon 8 of the FGB gene, leading to p.Trp433* (TGG > TGA). Further Sanger sequencing revealed the presence of this mutation in his great-grandmother, grandfather, father, and sister as well.
Conclusion: The FGB gene variant c.1299G > A (p.Trp433*) across four consecutive generations is associated with CFD.
期刊介绍：
Thrombosis Journal is an open-access journal that publishes original articles on aspects of clinical and basic research, new methodology, case reports and reviews in the areas of thrombosis.
Topics of particular interest include the diagnosis of arterial and venous thrombosis, new antithrombotic treatments, new developments in the understanding, diagnosis and treatments of atherosclerotic vessel disease, relations between haemostasis and vascular disease, hypertension, diabetes, immunology and obesity.
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