R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese

Tsay, Woei; Shen, Ming‐Ching

doi:10.1002/ajh.20043

Cited by 28 publications

(26 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…F139V has been found in the PC deficiency pedigrees of Chinese and Japanese (Miyata et al, 1996;Zhou et al, 2007). D255H has also been reported in patients with PC deficiency and venous thrombosis (Tsay and Shen, 2004). The family members with the D255H heterogeneous mutation had lower levels of PC:A and PC:Ag compared to those members with F139V, suggesting that the D255H mutation impacts the quantity of PC more significantly.…”

Section: Discussionmentioning

confidence: 92%

Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis

et al. 2014

View full text Add to dashboard Cite

ABSTRACT. We investigated the alteration of coagulation state in a protein C (PC) deficiency pedigree and the impact of the PC gene mutations. The pedigree of a proband with cerebral hemorrhagic infarction had sixteen members with four generations. The plasma levels of PC activity (PC:A), protein S activity (PS:A), factor V:C and factor VIII:C, and routine coagulation tests were measured. Nine exons of the PC gene (PROC) were sequenced. Plasma PC:A and PC antigen (PC:Ag) of the proband were 26 and 18%, respectively, which was significantly lower than normal ranges. Two heterozygous missense mutations of PC in the proband were identified, T>G at site 6128 (exon 7) and G>C at site 8478 (exon 9) resulting in F139V and D255H, respectively. The family members with F139V (N = 4) or D255H (N = 4) had lower levels of PC:A and PC:Ag than members with wild-type 2970

show abstract

Section: Discussionmentioning

confidence: 92%

Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis

et al. 2014

View full text Add to dashboard Cite

show abstract

“…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. The prevalence rates of heterozygous and homozygous p.R147W, among 690 volunteers, were 5.8% and 0.1%, respectively.…”

Section: Discussionmentioning

confidence: 92%

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

Sirachainan

Chuansumrit

Sasanakul

et al. 2017

Clin Appl Thromb Hemost

View full text Add to dashboard Cite

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.

show abstract

“…. Large vessel thrombosis, including renal vein thrombosis, has been reported in some infants 13) . Pur pura fulminans is triggered by infection, trauma, and even minor decreases in levels of therapeutic anticoagulants 14,15) .…”

Section: Case Reportmentioning

confidence: 99%

Diagnosis of Severe Protein C Deficiency Confirmed by Presence of RarePROCGene Mutation

et al. 2016

View full text Add to dashboard Cite

Protein C (PROC) deficiency is caused by mutations in the PROC gene on chromo some 2q14.3. Patients with PROC deficiency typically present distinguished purpura, intracerebral and intravascular coagulopathy, and ophthalmologic complications. Here, we report a rare severe form of PROC deficiency resulting from a compound heterozygosity in PROC. The patient was a 5dayold female neonate born at 39 weeks of gestation with a birth weight of 2,960 g. She was transferred to our hospital with running a fever at 38.5°C and with dark red patches on her feet. At admission, a complete blood count showed no specific findings, but levels of PROC and protein S were abnormally low (1% and 68%, respectively). Magnetic resonance imaging re vealed intracerebral hemorrhaging and parenchymal damage with dysplasia of the brain. Ophthalmologic examination revealed vitreous hemorrhaging with retinal detachment. Genetic testing revealed a missense mutation (Arg211Trp) and a frame shift mutation (Gly239Serfs*8) in PROC, inherited from the father and mother, res pectively. The patient recovered from purpura after undergoing ventriculoperi toneal shunting and treatment with fresh frozen plasma, warfarin sodium, and PROC con cen trate. This is the first report of severe neonatal PROC deficiency with purpura fulminans, vitreous hemorrhage, and intracerebral hemorrhage confirmed via PROC genetic testing, which identified a rare compound heterozygosity of PROC.

show abstract

R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese

Cited by 28 publications

References 19 publications

Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis

Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis

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

Diagnosis of Severe Protein C Deficiency Confirmed by Presence of RarePROCGene Mutation

Contact Info

Product

Resources

About