A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient
Izquierdo, S ; Barrio, E (Universidad de Zaragoza) ; Llinares, FM ; Lorente, F ; Calvo, MT
Resumen: 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 im- mobilization 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 deter- mined 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 pa- tient and first-degree relatives as it important to detect prothrombin gene variants that could increase risk for thrombotic events.
Idioma: Inglés
DOI: 10.11613/BM.2014.018
Año: 2014
Publicado en: Biochemia Medica 24, 1 (2014), 159-166
ISSN: 1330-0962
Factor impacto JCR: 2.667 (2014)
Categ. JCR: MEDICAL LABORATORY TECHNOLOGY rank: 7 / 30 = 0.233 (2014) - Q1 - T1
Tipo y forma: Article (Published version)
Área (Departamento): Area Histología (Dpto. Anatom.Histolog.Humanas)
You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. You may not use the material for commercial purposes. If you remix, transform, or build upon the material, you may not distribute the modified material.
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Case and methods: The 56-year-old male patient with a partial tear of the Achilles tendon developed calf (tibial) deep vein thrombosis after im- mobilization 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 deter- mined 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 pa- tient and first-degree relatives as it important to detect prothrombin gene variants that could increase risk for thrombotic events.
Idioma: Inglés
DOI: 10.11613/BM.2014.018
Año: 2014
Publicado en: Biochemia Medica 24, 1 (2014), 159-166
ISSN: 1330-0962
Factor impacto JCR: 2.667 (2014)
Categ. JCR: MEDICAL LABORATORY TECHNOLOGY rank: 7 / 30 = 0.233 (2014) - Q1 - T1
Tipo y forma: Article (Published version)
Área (Departamento): Area Histología (Dpto. Anatom.Histolog.Humanas)
You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. You may not use the material for commercial purposes. If you remix, transform, or build upon the material, you may not distribute the modified material. Exportado de SIDERAL (2019-09-30-12:52:45)
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Record created 2015-11-17, last modified 2019-09-30