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A novel mutation in protein C gene ( PROC ) causing severe phenotype in neonatal period
Author(s) -
Unal Sule,
Gumruk Fatma,
Yigit Sule,
Tuncer Murat,
Tavil Betul,
Cil Onur,
Takci Sahin,
Urata Michiyo,
Hotta Taeko,
Kang Dongchon,
Cetin Mualla
Publication year - 2014
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24782
Subject(s) - purpura fulminans , medicine , asymptomatic , protein c , mutation , phenotype , gene , disseminated intravascular coagulation , thrombophilia , intracranial hemorrhages , coagulation , gastroenterology , thrombosis , genetics , surgery , biology , subarachnoid hemorrhage
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.