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Article

Novel p.C252G and p.C280X mutations in the epidermal growth factor-1 domain of thrombomodulin lead to a thrombosis-bleeding syndrome.

Journal of thrombosis and haemostasis : JTH - 1 Sept 2025

Wang Xiaoying, Yang Aizhen, Huang Shuyi, Zhao Zhenzhen, Ma Futian, Lu Yi, Guo Yujie, Wang Yan, Wu Yi, Zhang Jingyu

Abstract excerpt

BACKGROUND: Thrombomodulin (TM) binds thrombin, forming a thrombin-TM complex, thereby regulating the balance between coagulation and fibrinolysis. We found a proband carrying compound heterozygous mutations (c.754T>G, p.C252G and c.840C>A, p.C280X) in epidermal growth factor-1 of the THBD gene, resulting in TM deficiency. OBJECTIVES: To explore the molecular mechanism underlying the anticoagulant defect caused...

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Identifiers

PMID: 40414460
DOI: 10.1016/j.jtha.2025.05.014

Genes

THBD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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