A novel compound heterozygous mutations in protein C gene causing neonatal purpura fulminans

A novel compound heterozygous mutations in protein C gene causing neonatal purpura fulminans Neonatal purpura fulminans is a rare, life-threatening disease caused by severe congenital deficiency of protein C (PC) because of homozygous or compound heterozygous mutations in the PROC gene. Mutation analysis plays a critical role in diagnosing the disorder and offering prenatal guidance. In this study, we identified a genetic defect in the PROC gene leading to neonatal purpura fulminans. The propositus had very low PC activity (4%) and PC antigen activity (5%). DNA screening of the whole PROC gene revealed two compound heterozygous mutations in exon8 (c.795_796insA) and exon9 (c.1206_1207insG). These two variations led to the compound heterozygous mutations of Gly266Argfs∗4 and Pro405Alafs∗20, which were inherited from the patient's father and mother, respectively. His older sister is heterozygous for the Gly266Argfs∗4 mutation. The inserted nucleotides alter the protein by introducing a stop codon at the subsequent AA position, resulting in a truncated protein compared with the wild type. We deduced that the compound heterozygous mutations are responsible for the PC deficiency, the Gly266Argfs∗4 mutation has been confirmed to be a novel mutation. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Blood Coagulation & Fibrinolysis Wolters Kluwer Health

A novel compound heterozygous mutations in protein C gene causing neonatal purpura fulminans

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Publisher
Wolters Kluwer
Copyright
Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
0957-5235
eISSN
1473-5733
D.O.I.
10.1097/MBC.0000000000000687
Publisher site
See Article on Publisher Site

Abstract

Neonatal purpura fulminans is a rare, life-threatening disease caused by severe congenital deficiency of protein C (PC) because of homozygous or compound heterozygous mutations in the PROC gene. Mutation analysis plays a critical role in diagnosing the disorder and offering prenatal guidance. In this study, we identified a genetic defect in the PROC gene leading to neonatal purpura fulminans. The propositus had very low PC activity (4%) and PC antigen activity (5%). DNA screening of the whole PROC gene revealed two compound heterozygous mutations in exon8 (c.795_796insA) and exon9 (c.1206_1207insG). These two variations led to the compound heterozygous mutations of Gly266Argfs∗4 and Pro405Alafs∗20, which were inherited from the patient's father and mother, respectively. His older sister is heterozygous for the Gly266Argfs∗4 mutation. The inserted nucleotides alter the protein by introducing a stop codon at the subsequent AA position, resulting in a truncated protein compared with the wild type. We deduced that the compound heterozygous mutations are responsible for the PC deficiency, the Gly266Argfs∗4 mutation has been confirmed to be a novel mutation.

Journal

Blood Coagulation & FibrinolysisWolters Kluwer Health

Published: Mar 1, 2018

References

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