title: A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period.
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%.
authors.affiliation: Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey.
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
authors.forename: Sule
authors.initials: S
authors.lastname: Yigit
authors.forename: Murat
authors.initials: M
authors.lastname: Tuncer
authors.forename: Betul
authors.initials: B
authors.lastname: Tavil
authors.forename: Onur
authors.initials: O
authors.lastname: Cil
authors.forename: Sahin
authors.initials: S
authors.lastname: Takci
authors.forename: Michiyo
authors.initials: M
authors.lastname: Urata
authors.forename: Taeko
authors.initials: T
authors.lastname: Hotta
authors.forename: Dongchon
authors.initials: D
authors.lastname: Kang
authors.forename: Mualla
authors.initials: M
authors.lastname: Cetin
mesh_terms: D004211:Disseminated Intravascular Coagulation / Q000209:etiology* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000209:etiology* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000150:complications* / Q000235:genetics; D055665:Purpura Fulminans / Q000209:etiology* / Q000473:pathology
chemical_list: D011486:Protein C
keywords: PROC gene; Protein C; neonate; purpura fulminans