A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period. Issue 4 (20th September 2013)

• Record Type: Journal Article
• Authors: Unal, Sule; Gumruk, Fatma; Yigit, Sule; Tuncer, Murat; Tavil, Betul; Cil, Onur; Takci, Sahin; Urata, Michiyo; Hotta, Taeko; Kang, Dongchon; Cetin, Mualla
• Is Part Of: Pediatric blood & cancer. Volume 61:Issue 4(2014:Apr.)
• Page Start: 763
• Page End: 764
• Publication Date: 2013-09-20
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24782
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="pbc24782-sec-0001" sec-type="section"> <p>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 <italic>PROC</italic> 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.</p> </sec> </abstract>