FGB基因中的一个杂合性无义突变（c.1299G > A）导致了连续四代人患先天性纤维蛋白原疾病。
A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.
作者信息
Chen Wanling, Hu Jiasheng
机构信息
Department of Clinical Medicine, Xiamen Medical College, Xiamen, 361023, Fujian, China.
Department of Hematology, School of Medicine, Zhongshan Hospital of Xiamen University, Xiamen University, Xiamen, 361004, Fujian, China.
出版信息
Thromb J. 2025 Jun 12;23(1):63. doi: 10.1186/s12959-025-00746-4.
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.
背景
本研究的目的是阐明一个受先天性纤维蛋白原异常（CFD）影响的四代中国家系中的分子异常情况。
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的血浆纤维蛋白原浓度降低。值得注意的是，所呈现的病情在临床上无症状。全外显子组测序在FGB基因第8外显子中鉴定出一个杂合的c.1299G＞A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
连续四代的FGB基因变异c.1299G＞A（p.Trp433*）与CFD相关。
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