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OACSTPCD

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.