Zhu Hui, Liu Hongchao, Liu Jingyao
Department of Neurology, The First Hospital, Jilin University, Changchun, China.
Medicine (Baltimore). 2021 Mar 26;100(12):e25160. doi: 10.1097/MD.0000000000025160.
Hereditary Protein C (PC) deficiency is a rare genetic disorder caused by PROC gene mutation. In this article, we report a case of PC deficiency in a Chinese family due to a novel PROC gene mutation.
The proband presented with recurrent cerebral infarction over the course of the previous 3 years. He was admitted to the hospital due to signs of mental retardation.
Physical examination, laboratory tests, and magnetic resonance imaging demonstrated that the proband had a manifestation of PC deficiency that included acute cerebral infarction. DNA sequencing analysis revealed a missense variant, c.1015G > A (p.V339 M from valine to methionine) in exon 9 of the PROC gene. In addition, Sanger sequencing confirmed that the proband's son was heterozygous for the same variant. Therefore, the PROC gene mutation was transmitted in an autosomal dominant inheritance manner.
The patient was treated with a daily dosage of Warfarin (3.5 mg) and was scheduled to undergo regular blood coagulation tests.
At the 3-month follow-up appointment, the patient showed improvements in his overall health condition.
We identified a novel missense mutation in the PROC gene in a Chinese family which caused a decrease in the PC antigen level and recurrent cerebral infarction.
遗传性蛋白C（PC）缺乏症是一种由PROC基因突变引起的罕见遗传性疾病。在本文中，我们报告了一个中国家庭中因一种新的PROC基因突变导致的PC缺乏症病例。
先证者在过去3年中反复发生脑梗死。他因智力发育迟缓的症状入院。
体格检查、实验室检查和磁共振成像显示先证者有PC缺乏症的表现，包括急性脑梗死。DNA测序分析显示在PROC基因第9外显子中有一个错义变异，c.1015G>A（从缬氨酸变为甲硫氨酸的p.V339M）。此外，桑格测序证实先证者的儿子对同一变异为杂合子。因此，PROC基因突变以常染色体显性遗传方式传递。
患者每日服用华法林（3.5mg）进行治疗，并计划定期进行凝血检查。
在3个月的随访预约中，患者的整体健康状况有所改善。
我们在一个中国家庭中鉴定出PROC基因中的一种新的错义突变，该突变导致PC抗原水平降低和反复脑梗死。
