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Background <p>The aim of this study was to elucidate the molecular abnormalities in a four-generation Chinese family affected by congenital fibrinogen disorder (CFD).</p> Case presentation <p>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 &gt; A mutation in exon 8 of the <i>FGB</i> gene, leading to p.Trp433* (TGG &gt; TGA). Further Sanger sequencing revealed the presence of this mutation in his great-grandmother, grandfather, father, and sister as well.</p> Conclusion <p>The <i>FGB</i> gene variant c.1299G &gt; A (p.Trp433*) across four consecutive generations is associated with CFD.</p>

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A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations

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  • 发表日期：

    2025年6月12日

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  • Wanling Chen,
  • Jiasheng Hu

摘要

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.