Protein C deficiency in Thai children with thromboembolism: A report of clinical presentations and mutation analysis

Sirachainan, Nongnuch; Sasanakul, Werasak; Visudibhan, Annanit; Chuansumrit, Ampaiwan; Wongwerawattanakoon, Pakawan; Parapakpenjune, Surapan

doi:10.1016/j.thromres.2009.10.016

Cited by 4 publications

(6 citation statements)

References 15 publications

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“…The onset age and mode of the late‐onset patients with double mutations were varied. Late‐onset patients with the double mutations of PROC are rarely reported in Caucasians but are increasing in number in Asian countries (Table ). This discrepancy may be due to the high allelic frequency of FV Leiden and FII variant in Caucasians, which hampers the detection of rare double PROC mutations in adult patients.…”

Section: Discussionmentioning

confidence: 99%

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene

Inoue

Terachi

Uchiumi

et al. 2017

Pediatr Blood Cancer

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Section: Discussionmentioning

confidence: 99%

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene

Inoue

Terachi

Uchiumi

et al. 2017

Pediatr Blood Cancer

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“…1,3 Not only VTE, PC deficiency has been reported in children with ATE. 10 The p.R147W mutation in the PROC gene, a type 2 PC deficiency, is found to be common among Asian populations. 14,15 The present study demonstrated p.R147W as a common mutation in the Thai population.…”

Section: Discussionmentioning

confidence: 99%

“…4,8,9 The homozygous or double heterozygous PC mutations cause severe PC deficiency and present with purpura fulminans and severe TE at a very young age. 10 Protein C deficiency is caused by mutations of the PC (PROC) gene, which is located in the chromosome 2q13-q14. The PROC gene consists of 9 exons.…”

Section: Introductionmentioning

confidence: 99%

“…14 In 6 Thai children with TE and had low levels of PC, p.R147W was identified in 3 patients. 10 P.R147W mutation results in 3 times lower affinity for binding to endothelial PC receptor. 15 The present study aimed to identify the prevalence of p.R147W in the Thai population and children with TE and to identify the risk of this mutation leading to the development of TE.…”

Section: Introductionmentioning

confidence: 99%

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R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children

Sirachainan

Chuansumrit

Sasanakul

et al. 2017

Clin Appl Thromb Hemost

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The p.R147W mutation, the c.C6152T in exon 7, causing a change in amino acid from arginine to tryptophan of the PROC gene has been reported as a common mutation in Taiwanese populations with venous thromboembolism (VTE). The present study aimed to identify the prevalence of p.R147W in the Thai population and children with TE and the risk of developing TE. Patients aged 18 years diagnosed with TE were enrolled. The PROC gene was amplified by polymerase chain reaction using a specific primer in exon 7. The restriction fragment length polymorphism was designed using MwoI restriction enzyme. A total of 184 patients and 690 controls were enrolled. The most common diagnosis of TE was arterial ischemic stroke (AIS), at 100 (54.3%), followed by VTE, at 38 (20.6%), and cerebral venous sinus thrombosis (CVST), at 23 (12.5%). The prevalence of heterozygous and homozygous p.R147W in patients and controls was 9.5% versus 5.8% and 2.7% versus 0.1%, respectively. Heterozygous p.R147W had odds ratios (ORs) of 1.8 (95% confidence interval [CI]: 1.0-3.2, P ¼ .04), 3.2 (95% CI: 1.2-8.2, P ¼ .009), and 4.5 (95% CI: 1.6-12.8, P ¼ .002) of developing overall TE, VTE, and CVST, respectively. Homozygous p.R147W had ORs of 20.2 (95% CI: 2.3-173.7, P < .001), 21.4 (95% CI: 2.2-207.9, P < .001), and 43.3 (95% CI: 3.8-490.6, P < .001) of developing overall TE, AIS, and CVST, respectively. This study suggested that p.R147W is a common mutation and increased risk of TE in Thai children.

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“…The established genetic risks of venous thromboembolism (VTE) include protein C (PC), protein S (PS), and antithrombin (AT) deficiency, as well as factor V G1691A (FVL) and prothrombin G20210A (FII) variants (4). The high incidence of VTE in Caucasians (5) is explained by the fact that FVL and FII G20210A carriers were found in 20-60% of adult VTE patients in Caucasian but not Asian ancestries (6)(7)(8)(9). PC, PS, and AT deficiencies share the lower prevalence than FVL and/or FII G20210A carriers, but the higher risk of the first and recurrent VTE than the other thrombophilias.…”

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confidence: 99%

Age-specific onset and distribution of the natural anticoagulant deficiency in pediatric thromboembolism

et al. 2015

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Protein C deficiency in Thai children with thromboembolism: A report of clinical presentations and mutation analysis

Cited by 4 publications

References 15 publications

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene

R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children

Age-specific onset and distribution of the natural anticoagulant deficiency in pediatric thromboembolism

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