PROS1基因新同义突变致以脑梗死起病的遗传性蛋白S缺陷症家系调查  

A novel synonymous mutation in PROS1 causing hereditary protein S deficiency in a family with cerebral infarction

作　　者：赵瑾莹 潘蓉蓉 金慧慧 刘春梅[1] 黄婷 张颖冬[1] 田有勇[1] ZHAO Jin-ying;PAN Rong-rong;JIN Hui-hui(Department of Neurology,Nanjing First Hospital,Nanjing Medical University,Nanjing 210000,China)

机构地区：[1]南京医科大学附属南京医院(南京市第一医院)神经内科,210000

出　　处：《临床神经病学杂志》2024年第3期184-187,共4页Journal of Clinical Neurology

基　　金：科技创新2030——“脑科学与类脑研究”重大项目(2021ZD0201807)。

摘　　要：目的调查一个以急性脑梗死起病的遗传性蛋白S缺陷症家系的临床特征,分析其PROS1基因的突变特点。方法收集先证者及其直系亲属的临床资料,采集血标本,检测蛋白S活性水平并对PROS1基因进行测序。结果该家系直系亲属三代8人,其中3名确诊为遗传性蛋白S缺陷症,先证者及其兄均表现为急性脑梗死,余家系成员尚未发生血栓事件。检测蛋白S活性:先证者、先证者之兄、先证者母亲分别为16.8%、38.0%、31.8%,父亲正常。基因分析发现先证者、先证者之兄、先证者母亲PROS1基因第11外显子均存在c.1323G>A杂合变异,父亲为野生型。结论本家系为一个新发现的由PROS1基因c.1323G>A同义突变引起的遗传性蛋白S缺陷症家系;此突变可能导致青年缺血性脑卒中的发生。Objective Objective To investigate the clinical characteristics of a hereditary protein S deficiency family with acute cerebral infarction and to analyze the mutational characteristics of the PROS1 gene.Methods Clinical data of the proband and their immediate family members were collected,blood samples were obtained,protein S activity levels were analyzed,and PROS1 genes were sequenced.Results The family consisted of three generations and eight direct relatives.Among them,three individuals were diagnosed with hereditary protein S deficiency.The proband and his brother suffered from acute cerebral infarction,while the other family members had not yet experienced thrombotic events.The protein S activity levels of the proband,his brother and their mother were 16.8%,38.0%and 31.8%,respectively,while the father's levels were normal.Gene test found that the proband,his brother and their mother possessed a heterozygous variant c.1323G>A in exon 11 in PROS1,while his father exhibited the wild-type.Conclusions The study reports the identification of a familial protein S deficiency,which is attributed to a novel synonymous mutation(c.1323G>A)in the PROS1 gene.This genetic alteration may lead to ischemic stroke in youth.

关 键 词：青年缺血性脑卒中 PROS1基因 同义突变 遗传性蛋白S缺陷症 

分 类 号：R743.3[医药卫生—神经病学与精神病学]