title: Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism.
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.
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Srinagarind Hospital, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Patcharee
authors.initials: P
authors.lastname: Komwilaisak
authors.affiliation: Faculty of Medicine Ramathibodi Hospital, Department of Pediatrics, Mahidol University, Bangkok, Thailand.
authors.forename: Werasak
authors.initials: W
authors.lastname: Sasanakul
authors.affiliation: Faculty of Medicine Ramathibodi Hospital, Department of Pediatrics, Mahidol University, Bangkok, Thailand.
authors.forename: Ampaiwan
authors.initials: A
authors.lastname: Chuansumrit
authors.affiliation: Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand.
authors.forename: Somjai
authors.initials: S
authors.lastname: Kanjanapongkul
authors.affiliation: Department of Pediatrics, Buddhachinaraj Hospital, Phitsanulok, Thailand.
authors.forename: Somporn
authors.initials: S
authors.lastname: Wangruangsathit
authors.affiliation: Department of Pediatric Neurology, Prasat Neurological Institute, Bangkok, Thailand.
authors.forename: Apasri
authors.initials: A
authors.lastname: Lusawat
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Pimlak
authors.initials: P
authors.lastname: Charoenkwan
authors.affiliation: Faculty of Medicine Ramathibodi Hospital, Department of Pediatrics, Mahidol University, Bangkok, Thailand.
authors.forename: Nongnuch
authors.initials: N
authors.lastname: Sirachainan
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018455:Protein S Deficiency / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology; D012189:Retrospective Studies; D012851:Sinus Thrombosis, Intracranial / Q000235:genetics*; D020521:Stroke / Q000235:genetics*; D013785:Thailand / Q000453:epidemiology; D013923:Thromboembolism / Q000453:epidemiology* / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
keywords: children; genetic; protein S deficiency; thromboembolism; thrombophilia