Hereditary protein C deficiency caused by novel compound heterozygous mutants in a Chinese pedigree: A case report

Yi Li; Ruimin Cai; Wenyang Wang; Qiang Feng; Xue Gao; Ping Liu; Meirong Liu; Chunling Qi

doi:10.1016/j.transci.2019.08.017

Hereditary protein C deficiency caused by novel compound heterozygous mutants in a Chinese pedigree: A case report

Transfus Apher Sci. 2019 Oct;58(5):685-687. doi: 10.1016/j.transci.2019.08.017. Epub 2019 Sep 5.

Authors

Yi Li¹, Ruimin Cai¹, Wenyang Wang¹, Qiang Feng², Xue Gao¹, Ping Liu¹, Meirong Liu¹, Chunling Qi¹

Affiliations

¹ Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
² Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China. Electronic address: fengqiang915@163.com.

PMID: 31521534
DOI: 10.1016/j.transci.2019.08.017

Abstract

Purpura fulminans (PF) is a neonatal presentation of homozygous or compound heterozygous protein C (PC) deficiency; infants who are diagnosed with it are determined to have a major defect in coagulation regulation which is associated with undetectable levels of PC. We report a pedigree who suffered from the hereditary PC deficiency with compound heterozygous mutants; genetic analysis revealed compound heterozygous mutations of 262 G > T(Asp88Tyr) and 400 + 5G > A that were identified in the proband; moreover, Asp88Tyr and 400 + 5G > A were also detected in the father and the mother, respectively. A bioinformatics analysis revealed 262 G > T is probably damaging, and structural analysis indicated a possible mechanism for the functional impairment of PC in this pedigree.

Keywords: Compound heterozygous mutations; Gla domain; Hereditary protein C deficiency; Protein C; Purpura fulminans.

Publication types

Case Reports

MeSH terms

Amino Acid Substitution
Asian People*
China
Female
Humans
Infant
Mutation, Missense*
Pedigree*
Protein C Deficiency / genetics*
Purpura Fulminans / genetics*