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GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients.

Human mutation - 1 Jan 2022

Ghosh Suvoshree, Kraus Katrin, Biswas Arijit, Müller Jens, Forin Francesco, Singer Heike, Höning Klara, Hornung Veit, Watzka Matthias, Oldenburg Johannes, Czogalla-Nitsche Katrin J

Abstract excerpt

γ-Glutamyl carboxylase (GGCX) catalyzes the γ-carboxylation of 15 different vitamin K dependent (VKD) proteins. Pathogenic variants in GGCX cause a rare hereditary bleeding disorder called Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1). In addition to bleedings, some VKCFD1 patients develop skin laxity and skeletal dysmorphologies. However, the pathophysiological mechanisms underlying these...

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PMID: 34816548
DOI: 10.1002/humu.24300

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