Li Yi, Cai Ruimin, Wang Wenyang, Feng Qiang, Gao Xue, Liu Ping, Liu Meirong, Qi Chunling
Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
Transfus Apher Sci. 2019 Oct;58(5):685-687. doi: 10.1016/j.transci.2019.08.017. Epub 2019 Sep 5.
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.
暴发性紫癜（PF）是纯合子或复合杂合子蛋白C（PC）缺乏症的新生儿表现；被诊断为此病的婴儿被确定存在凝血调节方面的主要缺陷，这与无法检测到的PC水平有关。我们报告了一个患有遗传性PC缺乏症且带有复合杂合突变体的家系；基因分析显示，在先证者中鉴定出262 G > T（Asp88Tyr）和400 + 5G > A的复合杂合突变；此外，分别在父亲和母亲中也检测到了Asp88Tyr和400 + 5G > A。生物信息学分析显示262 G > T可能具有损害性，结构分析表明了该家系中PC功能受损的一种可能机制。
