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

Sule Unal, Fatma Gumruk, Sule Yigit, Murat Tuncer, Betul Tavil, Onur Cil, Sahin Takci, Michiyo Urata, Taeko Hotta, Dongchon Kang, Mualla Cetin

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

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%.

Original languageEnglish
Pages (from-to)763-764
Number of pages2
JournalPediatric Blood and Cancer
Volume61
Issue number4
DOIs
Publication statusPublished - Apr 2014

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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