Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism

• Main Authors: Komwilaisak P., Sasanakul W., Chuansumrit A., Kanjanapongkul S., Wangruangsathit S., Lusawat A., Charoenkwan P., Sirachainan N.
• 格式: 雜誌
• 出版: 2017
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84991439230&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/40521

© 2016 Wiley Periodicals, Inc. The prevalence of protein S (PS) deficiency in Asian patients with venous thromboembolism is around 8–30%, higher than that in Caucasian populations. The present study reports the genotypes (including one novel mutation) and phenotypes of children with PS deficiency at a tertiary care institute. A total of six patients were included, three with arterial ischemic stroke, two with cerebral venous sinus thrombosis, and one with deep vein thrombosis. PS mutations were identified in four patients: p.R355C, p.G336D, p.E67A, and p.N188KfsX9. p.N188KfsX9 is a novel mutation with less than 20% PS activity noted in heterozygotes.