{"title":"新型纤维蛋白原突变 p.BβAla68Asp 导致遗传性纤维蛋白原不良血症。","authors":"Kaiqi Jia, Manlin Zeng, Xiaoyong Zheng, Haixiao Xie, Lihong Yang, Yaosheng Xie, Mingshan Wang","doi":"10.1055/a-2116-8957","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong> Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis.</p><p><strong>Methods: </strong> The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of mutation. Conservation analysis and protein model analysis were performed using online bioinformatics software.</p><p><strong>Results: </strong> The FIB:C and FIB:Ag of the proband were 1.28 and 2.20 g/L, respectively. Gene analysis revealed a heterozygous c.293C > A (p.BβAla68Asp) mutation in <i>FGB</i>. Bioinformatics and modeling analysis suggested that the missense mutation could potentially have a deleterious effect on fibrinogen.</p><p><strong>Conclusion: </strong> The BβAla68Asp mutation in exon 2 of <i>FGB</i> may account for the reduced FIB:C levels observed in the pedigree. To our knowledge, this point mutation is the first report in the world.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"426-431"},"PeriodicalIF":2.7000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia.\",\"authors\":\"Kaiqi Jia, Manlin Zeng, Xiaoyong Zheng, Haixiao Xie, Lihong Yang, Yaosheng Xie, Mingshan Wang\",\"doi\":\"10.1055/a-2116-8957\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong> Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis.</p><p><strong>Methods: </strong> The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of mutation. Conservation analysis and protein model analysis were performed using online bioinformatics software.</p><p><strong>Results: </strong> The FIB:C and FIB:Ag of the proband were 1.28 and 2.20 g/L, respectively. Gene analysis revealed a heterozygous c.293C > A (p.BβAla68Asp) mutation in <i>FGB</i>. Bioinformatics and modeling analysis suggested that the missense mutation could potentially have a deleterious effect on fibrinogen.</p><p><strong>Conclusion: </strong> The BβAla68Asp mutation in exon 2 of <i>FGB</i> may account for the reduced FIB:C levels observed in the pedigree. To our knowledge, this point mutation is the first report in the world.</p>\",\"PeriodicalId\":55074,\"journal\":{\"name\":\"Hamostaseologie\",\"volume\":\" \",\"pages\":\"426-431\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2023-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hamostaseologie\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/a-2116-8957\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/7/29 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hamostaseologie","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/a-2116-8957","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/7/29 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia.
Objective: Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis.
Methods: The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of mutation. Conservation analysis and protein model analysis were performed using online bioinformatics software.
Results: The FIB:C and FIB:Ag of the proband were 1.28 and 2.20 g/L, respectively. Gene analysis revealed a heterozygous c.293C > A (p.BβAla68Asp) mutation in FGB. Bioinformatics and modeling analysis suggested that the missense mutation could potentially have a deleterious effect on fibrinogen.
Conclusion: The BβAla68Asp mutation in exon 2 of FGB may account for the reduced FIB:C levels observed in the pedigree. To our knowledge, this point mutation is the first report in the world.
期刊介绍：
Hämostaseologie is an interdisciplinary specialist journal on the complex topics of haemorrhages and thromboembolism and is aimed not only at haematologists, but also at a wide range of specialists from clinic and practice. The readership consequently includes both specialists for internal medicine as well as for surgical diseases.
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