A novel splicing mutation in the PROS1 gene causes hereditary protein S deficiency in a Chinese family with thrombotic disease. Issue 189 (May 2020)

• Record Type: Journal Article
• Authors: Tan, Ya; Yang, Kai; Wang, Jing; Sun, Xinping; Li, Ruirui; Dong, Zhe; Zhao, Na; Yan, Yousheng; Lin, Li
• Is Part Of: Thrombosis research. Issue 189(2020)
• Page Start: 93
• Page End: 95
• Publication Date: 2020-05
• Subjects: Thrombosis -- Periodicals; 616.135
• DOI: 10.1016/j.thromres.2020.03.006
• Languages: English
• ISSNs: 0049-3848

Abstract

Highlights: A heterozygous splicing variation PROS1 : c.965 + 4A > T was found in a family with venous thrombosis. PROS1 : c.965 + 4A > T splice site variant activated a cryptic donor site located inside exon 9, leading to the deletion of the last 78 nucleotides of PROS1 mRNA exon 9. The deletion in exon 9 causes the loss of 26 protein S amino acid residues that border the Laminin_G_1 domain.