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<p>Venous thromboembolism is a common fatal disease that includes pulmonary embolism (PE) and deep vein thrombosis (DVT), and many genetic risk factors are associated with its pathogenesis. We describe a patient with compound heterozygous mutations in <i>PROC</i> combined with a heterozygous mutation in <i>THBD</i>, who was diagnosed with DVT. Genetic sequencing identified three missense mutations in the proband: <i>PROC</i> c.565&#xa0;C &gt; T (p.R189W), <i>PROC</i> c.1218G &gt; A (p.M406I), and <i>THBD</i> c.1456G &gt; T (p.D486Y), this genotype not previously documented in association with thrombotic disease. His father carried heterozygous mutations of <i>PROC</i> p.R189W and <i>THBD</i> p.D486Y, while his mother and maternal grandfather were heterozygous for <i>PROC</i> p.M406I. These mutations were not detected in other family members.</p>

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A pedigree analysis of deep venous thrombosis caused by rare compound heterozygous PROC mutations combined with a heterozygous THBD mutation

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月26日

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  • Rui Tuo,
  • Lixuan Chen,
  • Xingxian Xiao,
  • Qinglin Mo,
  • Chaolin Chen,
  • Chang Su,
  • Ying Feng,
  • Yang Xiao

摘要

Venous thromboembolism is a common fatal disease that includes pulmonary embolism (PE) and deep vein thrombosis (DVT), and many genetic risk factors are associated with its pathogenesis. We describe a patient with compound heterozygous mutations in PROC combined with a heterozygous mutation in THBD, who was diagnosed with DVT. Genetic sequencing identified three missense mutations in the proband: PROC c.565 C > T (p.R189W), PROC c.1218G > A (p.M406I), and THBD c.1456G > T (p.D486Y), this genotype not previously documented in association with thrombotic disease. His father carried heterozygous mutations of PROC p.R189W and THBD p.D486Y, while his mother and maternal grandfather were heterozygous for PROC p.M406I. These mutations were not detected in other family members.