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Protein C deficiency (a novel mutation

ala291Thr) with systemic lupus erythematosus leads to the deep vein thrombosis

Su, Kankan; Zhang, Haiyue; Fang, Weiwei; Zhang, Feng; Yang, Lihong; Jin, Yanhui; Wang, Mingshan

Blood Coagulation & Fibrinolysis: December 2018 - Volume 29 - Issue 8 - p 714–719
doi: 10.1097/MBC.0000000000000778
MUTATION REPORT

The current study aims to explore the phenotype and genotype of a mutation Ala291Thr, which responsible for type I protein C (PC) deficiency in a Chinese woman. The PROC antigen was tested with chromogenic substrate method. PROC gene were amplified by PCR with direct sequencing. Bioinformatics and model analysis were used to study the harm of the mutation. PC activity (PC: A) levels of three members were reduced to 39, 57 and 56%, respectively, PC: antigen was decreased parallelly same as PC: A. Sequencing analysis showed proband with a novel heterozygous c.997G>A point mutation in exon 9 of PROC gene resulting in Ala291Thr. The Ala291Thr mutation is responsible for the decrease of PC: A, which is cross-reacting material negative deficiency and the first reported in the world. This mutation alone may not have significant clinical symptoms, whereas it will cause deep vein thrombosis when combined with systemic lupus erythematosus.

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China

Correspondence to Mingshan Wang, Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou 325000, China Tel: +86 57788069594; fax: +86 57788069596; e-mail: wywms@126.com

Received 28 June, 2018

Accepted 19 September, 2018

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