Genetic characterization of antithrombin, protein C and protein S deficiencies in Polish patients

Wypasek, Ewa; Corral, Javier; Alhenc‐Gelas, Martine; Sydor, Wojciech; Iwaniec, Teresa; Celińska-Löwenhoff, Magdalena; Potaczek, Daniel P.; Blecharczyk, Aleksandra; Zawilska, Krystyna; Musiał, Jacek; Undas, Anetta

doi:10.20452/pamw.4045

Cited by 30 publications

(59 citation statements)

References 27 publications

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“…Unfortunately, as compared with AT deficiency, the mutation detection rate by Sanger sequencing is often low for PC and PS deficiencies, suggesting that testing of patients with PC levels above 70% and free PS levels above 55% might not be expedient. 7 This is in line with the findings by Wypasek et al, 12 reporting that for PC levels below 70%, the mutation detection rate was above 90%, while for free PS levels below 40%, the mutation detection rate was 77%. It is also important to mention that the molecular diagnostics of PS deficiency is often complicated by the presence of PROS2, a pseudogene.…”

Section: Editorialsupporting

confidence: 84%

“…It is also important to mention that the molecular diagnostics of PS deficiency is often complicated by the presence of PROS2, a pseudogene. 1,7 In the study by Wypasek et al, 12 8 PROC mutations and 3 PROS1 mutations were reported for the first time. The majority of the newly detected PROC gene mutations (Cys387Tyr, p.Val434Ala, and p.Leu320Pro) clustered in exon 9, within the region encoding the catalytic domain.…”

Section: Editorialmentioning

confidence: 96%

“…7 Moreover, a genetic analysis can be particularly helpful when it comes to the differentiation between AT deficiency subtypes, thus facilitating patient care. Among the newly detected SERPINC1 gene mutations described by Wypasek et al, 12 type I deficiency is likely in the case of p.Glu338*, p.Val458_Cys462del insGly, c.948delC, p.Thr433Ser and c.625 -2A>G mutations. The new p.Ala118Pro and the p.Gly125Cys variants are located in highly conserved serpin residues and thus are likely to result in the disturbance of the correct folding of AT.…”

Section: Editorialmentioning

confidence: 97%

“…The reactive site, which is located at the carboxy -terminal part of the protein, is encoded by exon 7 of the SERPINC1 gene, while the heparin -binding site is encoded by exons 2 and 3. 1,7 In the study by Wypasek et al, 12 the causative mutation was found in 26 of 35 patients with AT deficiency, leading to a mutation detection rate of 74%. In individuals with AT activity below 70%, the mutation detection rate was 90%.…”

Section: 613mentioning

confidence: 99%

“…et al 12 published the first large and comprehensive study analyzing the genetic background of natural anticoagulant deficiencies in the Polish Slavic population. The authors evaluated the causal genetic background of 90 unrelated patients (mean [SD] age, 40.1 [13.2] years) with AT (n = 35), PC (n = 28), or PS (n = 27) deficiencies, screening for mutations using the Sanger sequencing and multiplex ligation -dependent probe amplification.…”

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confidence: 99%

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Uncovering the genetic background of natural anticoagulant deficiencies: time to look behind the scenes

Bagoly¹

2017

Polish Archives of Internal Medicine

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Section: Editorialsupporting

confidence: 84%

Section: Editorialmentioning

confidence: 96%

Section: Editorialmentioning

confidence: 97%

Section: 613mentioning

confidence: 99%

mentioning

confidence: 99%

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Uncovering the genetic background of natural anticoagulant deficiencies: time to look behind the scenes

Bagoly¹

2017

Polish Archives of Internal Medicine

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A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism

Peng

Ouyang

2019

Clinical Laboratory Analysis

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This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. AbstractBackground: Thrombophilia is becoming a more frequently reported disorder these years. Hereditary protein S deficiency is one of the anticoagulant deficiencies that eventually results in thrombophilia.

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Venous thromboembolism associated with protein S deficiency due to $$\hbox {Arg}451^{*}$$ Arg 451 ∗ mutation in PROS1 gene: a case report and a literature review

Wypasek

Karpiński

Alhenc‐Gelas

et al. 2017

J Genet

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Protein S (PS) is a vitaminK-dependent glycoproteinwhich plays an important role in the regulation of blood coagulation. PS deficiency has been found in 1.5-7% of thrombophilic patients. Here, we report the first Polish case with PS deficiency caused by the p.Arg451* in the PROS1 gene detected in a 21-year-old man with trauma-induced venous thromboembolism. To our knowledge, we provided the review of all the available data on this mutation (a total of 56 cases). The proband, his mother and his sister were screened for thrombophilia. To elucidate genetic background of PS deficiency, all PROS1 genes were subjected to direct sequencing. The free PS levels were 35% in the proband, 21% in the proband's mother and 28% in the proband's sister and their PS total levels were 37.1, 47.5 and 55.1%, respectively. Type I PS deficiency was diagnosed. In all patients, genetic analysis revealed the presence of heterozygous nonsense mutation (c.1351C>T; p.Arg451*) located in exon 12 of PROS1 gene. This mutation interrupts the reading frame by premature termination codon at position 451 and may lead to the production of truncated protein. The present case combined with the review of the literature suggests that p.Arg451* in the PROS1 gene mainly leads to clinically evident thrombosis following trauma, surgery or serious comorbidities especially malignancy.

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Genetic characterization of antithrombin, protein C and protein S deficiencies in Polish patients

Cited by 30 publications

References 27 publications

Uncovering the genetic background of natural anticoagulant deficiencies: time to look behind the scenes

Uncovering the genetic background of natural anticoagulant deficiencies: time to look behind the scenes

A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism

Venous thromboembolism associated with protein S deficiency due to $$\hbox {Arg}451^{*}$$ Arg 451 ∗ mutation in PROS1 gene: a case report and a literature review

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