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Jian-Ke Tie’s Team on Comorbidity of VitK-dependent Clotting Factors Deficiency and Chondrodysplasia Punctata
Jian-Ke Tie/THE UNIVERSITY of NORTH CAROLINA at CHAPEL HILL
Nov 6, 2025, 06:57

Jian-Ke Tie’s Team on Comorbidity of VitK-dependent Clotting Factors Deficiency and Chondrodysplasia Punctata

Journal of Thrombosis and Haemostasis (JTH) shared on LinkedIn:

”Molecular insights into the comorbidity of vitamin K–dependent clotting factor deficiency and chondrodysplasia punctata

By Da-Yun Jin, Xuejie Chen, Mengying Wang, Xiaofeng Qi, Darrel W. Stafford, Sara Lewis, Mitchell J. Weiss, Ulrike M. Reiss, and Jian-Ke Tie

• Mutations in gamma-glutamyl carboxylase (GGCX) disrupt the vitamin K cycle, causing combined bleeding diathesis and skeletal calcification defects, yet responses to vitamin K therapy vary.
• In a patient with two novel compound heterozygous GGCX mutations (H587R and P596fs), researchers used bioluminescent assays, split-nanoluciferase complementation, and structural modeling to dissect differential effects on hepatic and extrahepatic vitamin K–dependent proteins (VKDPs).
• The P596fs variant abolished enzyme activity, while H587R selectively impaired extrahepatic VKDPs(e.g., matrix Gla protein), explaining why coagulation improved but skeletal abnormalities persisted. This highlights how mutation-specific GGCX dysfunction shapes phenotype and therapeutic response.”

Read the full article here.

Article: Molecular insights into the comorbidity of vitamin K-dependent clotting factor deficiency and chondrodysplasia punctata

Authors: Da-Yun Jin, Xuejie Chen, Mengying Wang, Xiaofeng Qi, Darrel W. Stafford, Sara Lewis, Mitchell J. Weiss, Ulrike M. Reiss, Jian-Ke Tie

Jian-Ke Tie's Team on Comorbidity of VitK-dependent Clotting Factors Deficiency and Chondrodysplasia Punctata

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bleeding diathesis bleeding disorders chondrodysplasia punctata clotting factor deficiency Da-Yun Jin Darrel W. Stafford GGCX Health Hematology Hemostasis Hemostasis Today Jian-Ke Tie JTH Medicine Mengying Wang Mitchell J. Weiss Sara Lewis Ulrike M. Reiss Vitamin K VKDPs Xiaofeng Qi Xuejie Chen
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