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Pediatr Blood Cancer. 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.

Author information

1
Faculty of Medicine, Department of Pediatrics, Srinagarind Hospital, Khon Kaen University, Khon Kaen, Thailand.
2
Faculty of Medicine Ramathibodi Hospital, Department of Pediatrics, Mahidol University, Bangkok, Thailand.
3
Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand.
4
Department of Pediatrics, Buddhachinaraj Hospital, Phitsanulok, Thailand.
5
Department of Pediatric Neurology, Prasat Neurological Institute, Bangkok, Thailand.
6
Faculty of Medicine, Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand.

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

PMID:
27748013
DOI:
10.1002/pbc.26301
[Indexed for MEDLINE]

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