Functional Polymorphism in Gamma-Glutamylcarboxylase is a Risk Factor for Severe Neonatal Hemorrhage - 28/07/11
Doi : 10.1016/j.jpeds.2011.04.044
Olivier M. Vanakker, MD, PhD a, Kris De Coen, MD b, Laura Costrop a, Paul J. Coucke, PhD a, Piet Vanhaesebrouck, MD, PhD b, Anne De Paepe, MD, PhD a
a Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
b Department of Neonatal Intensive Care, Ghent University Hospital, Ghent, Belgium
Abstract |
A neonate who received vitamin K (VK) supplementation then developed severe late-onset bleeding with abnormal prothrombin time and activated partial thromboplastine time. The bleeding was corrected after intravenous VK. Molecular analysis of the gamma-glutamylcarboxylase gene revealed a heterozygous single nucleotide polymorphism, which decreases carboxylase activity and induces VK-dependent coagulation deficiency.
Le texte complet de cet article est disponible en PDF.Mots-clés : GGCX, HDN, SNP, VK, VKORC1
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| The authors declare no conflicts of interest. |
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Vol 159 - N° 2
P. 347-349 - août 2011 Retour au numéro
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