Key result
Novel C20209T prothrombin mutation linked to venous thrombosis or stroke in African American patients.
Why the study?
The clinical significance and detection of a novel prothrombin gene mutation at position 20209 were not known and may be underrecognized by common assays.
Case Report (n=4)
Answers are grounded in this paper and cite their sources.
A novel C20209T mutation in the prothrombin gene was identified, which may be associated with thrombotic risk and is missed by standard PCR/restriction digestion assays.
Detection of the prothrombin G20210A mutation was performed on the LightCycler Instrument (Roche Molecular Biochemicals, Mannheim, Germany) using commercially available primers and hybridization probes. Herein we report four cases from unrelated African American individuals where LightCycler analysis showed atypical melting curves. Sequence analysis of the four samples showed heterozygosity for a C to T mutation 1 bp upstream from the known 20210 mutation at position 20209. The clinical significance of this mutation is not known, but three patients in whom it was detected had a history of venous thrombosis or stroke. The fourth patient had severe liver disease, which may have masked thrombotic predisposition. Since most assays used to detect the G20210A mutation use a PCR/restriction digestion assay, which would not detect the C20209T mutation, this new mutation may be underrecognized when prothrombin gene mutation testing is performed by PCR/restriction digestion assay.
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Warshawsky et al. (2002) conducted a case report in Prothrombin gene mutation (n=4). C20209T prothrombin gene mutation was evaluated on Clinical history of venous thrombosis or stroke. A novel C20209T prothrombin gene mutation was identified in four African American individuals, three of whom had a history of venous thrombosis or stroke.
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