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Digenic Inheritance of PROC and SERPINC1 Mutations Contributes to Multiple Sites Venous Thrombosis

Xiangui Li1, Jiabao Zhu1, Fanzhen Lv1

  • 1Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.

Hamostaseologie
|January 15, 2024
PubMed

Insights

This study identified two genetic mutations, a novel PROC gene variant and a SERPINC1 gene variant, in a patient with multiple venous thromboembolism events. Digenic inheritance highlights the genetic complexity of hereditary thrombosis.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Venous thromboembolism (VTE) is a significant global health issue.
  • Genetic factors contribute to the development of VTE, termed hereditary thrombosis.
  • Identifying genetic predispositions is crucial for managing high-risk individuals.

Purpose of the Study:

  • To investigate the genetic basis of recurrent venous thrombosis in a patient with no identifiable risk factors.
  • To identify pathogenic variants associated with inherited thrombophilia.

Main Methods:

  • Whole-exome sequencing was performed on the proband to screen for thrombophilia-related genes.
  • Putative genetic variants were confirmed using Sanger sequencing in the patient's family.
  • Analysis focused on identifying mutations in genes associated with inherited thrombophilia.

Main Results:

  • The proband was found to carry two distinct genetic mutations.
  • A novel mutation, c.400G>C (p.E134Q), was identified in the PROC gene, potentially affecting mRNA splicing.
  • A previously reported heterozygous nonsense variant, c.1016G>A (p.W339X), was identified in the SERPINC1 gene.

Conclusions:

  • The patient presented with digenic inheritance, inheriting one mutation from each parent.
  • This case underscores the complex genetic etiology of venous thrombosis.
  • An unbiased genetic screening approach is vital for diagnosing hereditary thrombosis, particularly in cases with a high VTE risk.

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