Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 May;64(5).
doi: 10.1002/pbc.26301. Epub 2016 Oct 17.

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

Patcharee Komwilaisak  1 , Werasak Sasanakul  2 , Ampaiwan Chuansumrit  2 , Somjai Kanjanapongkul  3 , Somporn Wangruangsathit  4 , Apasri Lusawat  5 , Pimlak Charoenkwan  6 , Nongnuch Sirachainan  2
Affiliations

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

Patcharee Komwilaisak et al. Pediatr Blood Cancer. 2017 May.

Abstract

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.

Keywords: children; genetic; protein S deficiency; thromboembolism; thrombophilia.

PubMed Disclaimer

Publication types

LinkOut - more resources