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Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation

 Myung Seop Lim  ;  Jung Eun Shin  ;  Soon Min Lee  ;  Ho Sun Eun  ;  Min Soo Park  ;  Kook In Park  ;  Ran Namgung  ;  Kyung A Lee  ;  Jin Sung Lee 
 Neonatal Medicine, Vol.23(4) : 233-237, 2016 
Journal Title
Neonatal Medicine
Issue Date
Protein C (PROC) deficiency is caused by mutations in the PROC gene on chromosome 2q14.3. Patients with PROC deficiency typically present distinguished purpura, intracerebral and intravascular coagulopathy, and ophthalmologic complications. Here, we report a rare severe form of PROC deficiency resulting from a compound heterozygosity in PROC. The patient was a 5-day-old female neonate born at 39 weeks of gestation with a birth weight of 2,960 g. She was transferred to our hospital with running a fever at 38.5℃ and with dark red patches on her feet. At admission, a complete blood count showed no specific findings, but levels of PROC and protein S were abnormally low (1% and 68%, respectively). Magnetic resonance imaging revealed intracerebral hemorrhaging and parenchymal damage with dysplasia of the brain. Ophthalmologic examination revealed vitreous hemorrhaging with retinal detachment. Genetic testing revealed a missense mutation (Arg211Trp) and a frameshift mutation (Gly239Serfs*8) in PROC, inherited from the father and mother, respectively. The patient recovered from purpura after undergoing ventriculoperitoneal shunting and treatment with fresh frozen plasma, warfarin sodium, and PROC concentrate. This is the first report of severe neonatal PROC deficiency with purpura fulminans, vitreous hemorrhage, and intracerebral hemorrhage confirmed via PROC genetic testing, which identified a rare compound heterozygosity of PROC.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Namgung, Ran(남궁란) ORCID logo https://orcid.org/0000-0001-7182-9535
Park, Kook In(박국인) ORCID logo https://orcid.org/0000-0001-8499-9293
Park, Min Soo(박민수) ORCID logo https://orcid.org/0000-0002-4395-9938
Shin, Jeong Eun(신정은) ORCID logo https://orcid.org/0000-0002-4376-8541
Eun, Ho Seon(은호선) ORCID logo https://orcid.org/0000-0001-7212-0341
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Soon Min(이순민) ORCID logo https://orcid.org/0000-0003-0174-1065
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lim, Myung Seop(임명섭)
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