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

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

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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.

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