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

Autor: Komwilaisak P; Faculty of Medicine, Department of Pediatrics, Srinagarind Hospital, Khon Kaen University, Khon Kaen, Thailand., Sasanakul W; Faculty of Medicine Ramathibodi Hospital, Department of Pediatrics, Mahidol University, Bangkok, Thailand., Chuansumrit A; Faculty of Medicine Ramathibodi Hospital, Department of Pediatrics, Mahidol University, Bangkok, Thailand., Kanjanapongkul S; Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand., Wangruangsathit S; Department of Pediatrics, Buddhachinaraj Hospital, Phitsanulok, Thailand., Lusawat A; Department of Pediatric Neurology, Prasat Neurological Institute, Bangkok, Thailand., Charoenkwan P; Faculty of Medicine, Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand., Sirachainan N; Faculty of Medicine Ramathibodi Hospital, Department of Pediatrics, Mahidol University, Bangkok, Thailand.
Jazyk: angličtina
Zdroj: Pediatric blood & cancer [Pediatr Blood Cancer] 2017 May; Vol. 64 (5). Date of Electronic Publication: 2016 Oct 17.
DOI: 10.1002/pbc.26301
Abstrakt: 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.
(© 2016 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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