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

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