Prothrombin 20209C&gt;T: 16 new cases, association with the 19911A&gt;G polymorphism, and literature review

Warshawsky, Ilka; Makkar, Vinit; Rimmerman, Curtis M.; Kottke‐Marchant, Kandice

doi:10.1111/j.1538-7836.2009.03513.x

Cited by 11 publications

(8 citation statements)

References 21 publications

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“…Initial reports of prothrombin gene mutation C20209T differ as to whether this polymorphism is [16, 17] or is not [18] associated with an increased risk for development of VTE. …”

Section: Discussionmentioning

confidence: 99%

“…Warshawsky et al [17] described the heterozygous detection of the base exchange C→i T 1 bp upstream, at position 20209 of F2, in three unrelated African-American individuals with a history of VTE events. Van der Putten et al [18] concluded that the prothrombin C20209T mutation was probably not an important risk-modifier of VTE in African-Americans.…”

Section: Discussionmentioning

confidence: 99%

“…Serum prothrombin levels were elevated in these patients [21]. The exact incidence of the gene mutation is not well known [17, 22]. The C20209T prothrombin gene mutation can be detected by PCR methods.…”

Section: Discussionmentioning

confidence: 99%

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C20209T prothrombin gene mutation associated deep venous thrombosis in a hemodialysis patient

Bani-Hani

Siddiqui

Patel

et al. 2014

CNCS

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Venous thromboembolism (VTE) represents the formation of a blood clot in one of the deep veins of human body. The significant morbidity and mortality rates associated with VTE have spurred increasing investigations seeking to identify causative factors for this complex condition. While the most frequent causes of an inherited hypercoagulable state are the Factor V Leiden mutation and the prothrombin gene mutation, polymerase chain reaction (PCR) analysis has helped to identify other rare causes of inherited VTE. We report a case of a recurrent deep venous thrombosis in an end-stage renal disease patient. All laboratory tests for hypercoagulable states were normal. However, PCR analysis detected a rare polymorphism of prothrombin gene mutation at position C20209T, instead of G20210A. The patient was treated successfully with a high dose of warfarin to maintain adequate anti-coagulation during the 2-year follow-up.

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“…Initial reports of prothrombin gene mutation C20209T differ as to whether this polymorphism is [16, 17] or is not [18] associated with an increased risk for development of VTE. …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

C20209T prothrombin gene mutation associated deep venous thrombosis in a hemodialysis patient

Bani-Hani

Siddiqui

Patel

et al. 2014

CNCS

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“…Recent investigations showed that variants other than 20210G>A of the prothrombin gene suggests that additional nucleotide substitutions may contribute to the development of thrombotic events and adverse pregnancy outcomes and obstetric complications (3). The 20209C>T variant of the prothrombin gene has been found in individuals of African, Caucasian and Jewish-Moroccan origins, associated with venous thrombosis, pulmonary embolism, peripheral vascular disease, deep vein thrombosis, cerebrovascular accidents (4–14) and obstetrical complications (fetal loss or intrauterine growth retardation) (3). Initial reports differ as to whether or not this prothrombin variant is associated with an increased risk of venous thromboembolism (15).…”

Section: Introductionmentioning

confidence: 99%

A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient

et al. 2014

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Introduction:Additional nucleotide substitutions in the 3′-untranslated region of prothrombin gene could explain some thrombotic events and also adverse pregnancy outcomes. We describe the first case of a homozygous 20209C>T mutation as the cause of deep vein thrombosis in a Spanish patient.Case and methods:The 56-year-old male patient with a partial tear of the Achilles tendon developed calf (tibial) deep vein thrombosis after immobilization and was treated with an anticoagulant. To determine if the deep vein thrombosis was of genetic origin, a peripheral blood DNA sample was analysed for the presence of the three most frequent mutations associated with thrombotic events: factor V Leiden (1691G>A), prothrombin (20210G>A) and methylene tetrahydrofolate reductase (677C>T). The presence or absence of the normal allele of prothrombin could not be determined using the PTH-FV-MTHFR StripAssay (Vienna Lab).Results:Comprehensive analysis showed that the patient had a variant interfering with the polymerase chain reaction product, we sequenced the entire prothrombin gene and found that the patient had a homozygous C>T mutation at position 20209; this interfered with the polymerase chain reaction product, which needs a C at this position to be able to bind to the wild-type probe present in the test strip.Conclusion:The homozygous 20209C>T mutation and the presence of the mutation 677C>T in heterozygosity explained the patient’s deep vein thrombosis because the combination of mutations would increase the risk of thrombosis. Suitable genetic counselling should be provided to the patient and first-degree relatives as it important to detect prothrombin gene variants that could increase risk for thrombotic events.

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“…Esta mutación es más rara en pacientes asiáticos o afroamericanos 229 . Se han descrito otras mutaciones en el gen de la protrombina con significado clínico incierto [230][231][232][233] .…”

Section: Fisiopatologíaunclassified

Hipercoagulabilidad, foramen oval permeable e ictus criptogénico

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Prothrombin 20209C>T: 16 new cases, association with the 19911A>G polymorphism, and literature review

Cited by 11 publications

References 21 publications

C20209T prothrombin gene mutation associated deep venous thrombosis in a hemodialysis patient

C20209T prothrombin gene mutation associated deep venous thrombosis in a hemodialysis patient

A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient

Hipercoagulabilidad, foramen oval permeable e ictus criptogénico

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