A Novel Mutation in Protein C Gene (PROC) Causing Severe Phenotype in Neonatal Period

Unal Ş., Gumruk F., Yigit Ş., Tuncer M., Tavil B., Cil O., ...Daha Fazla

PEDIATRIC BLOOD & CANCER, cilt.61, sa.4, ss.763-764, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 61 Sayı: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1002/pbc.24782
  • Dergi Adı: PEDIATRIC BLOOD & CANCER
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.763-764
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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. (c) 2013 Wiley Periodicals, Inc.