A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period

Authors


  • The authors declare the absence of any conflict of interest. The study is not financially supported.

Abstract

Homozygous protein C deficiency is among rare causes of thrombophilia. Herein, we present a neonate with purpura fulminans, disseminated intravascular coagulation and severe intracranial hemorrhage who was found to have plasma protein C level of 4%. The molecular work-up revealed a novel homozygous mutation of T903C (amino acid position Leu 270 Pro) located in a catalytic domain region of PROC gene. Asymptomatic course in patients with low but measurable levels of protein C levels has been reported, which is different than observed in our patient who had a very severe course despite plasma protein C level of 4%. Pediatr Blood Cancer 2014;61:763–764. © 2013 Wiley Periodicals, Inc.

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