A NOVEL NONSENSE MUTATION IN THE ANTITHROMBIN-III GENE (CYS-4-]STOP) CAUSING RECURRENT VENOUS THROMBOSIS

We describe a novel mutation identified in the antithrombin III (AT-II I) propeptide responsible for AT-III deficiency. This mutation, a C to A transversion in exon 2, converts the cysteine at position -4 into a stop codon (TGC --> TGA). In this family with severe thrombophilia, t he mutation co-segregates with the clinical phenotype.