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August 9, 2025

Recurrent Venous Thrombosis in a Hypofibrinogenemic Patient Despite a Heterozygous Deletion of the Fibrinogen Gene Cluster and Hemizygous FGB p.Pro265Leu Variant Mimicking a Homozygous Genotype.

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Authors

SPSutharshini PunniyamoorthyELEva LeinøeEJEsther Jensen

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Overview

Case report highlights thrombosis in a hypofibrinogenemic patient with a fibrinogen gene deletion and hemizygous variant, indicating complex interactions between genes.

Key Points

  • A 77-year-old male with hypofibrinogenemia and factor V Leiden experienced recurrent deep vein thrombosis.
  • Whole exome sequencing revealed a heterozygous fibrinogen gene deletion and hemizygous FGB variant associated with reduced fibrinogen levels.
  • The coexistence of genetic factors appears to increase thrombosis risk despite low fibrinogen levels.
  • Findings illustrate the complex relationship between genotype and phenotype in thrombotic disorders.

Cite This Study

Punniyamoorthy et al. (2025) studied this question.

synapsesocial.com/papers/689dfe97d61984b91e13bf58https://doi.org/10.1055/a-2627-2741
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Hypofibrinogenemia in an individual with 2 coding (γ82 A→G and Bβ235 P→L) and 2 noncoding mutations2000 · 47 citations
  2. 2De novo 6.9 Mb interstitial deletion on chromosome 4q31.1‐q32.1 in a girl with severe speech delay and dysmorphic features2012 · 6 citations
  3. 3Diagnosis and classification of hereditary fibrinogen disorders2022 · 1 citations
  4. 4From Routine to Research Laboratory: Strategies for the Diagnosis of Congenital Fibrinogen Disorders2020 · 30 citations
  5. 5Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF2015 · 82 citations