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-III) 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, the mutation co-segregates with the clinical phenotype.
Saleun
S
S
INSERM U 428 et Centre Claude Bernard de Recherche sur les Maladies Vasculaires, Hôpital Broussais, Paris, France.
De Moerloose
P
P
Bura
A
A
Aiach
M
M
Emmerich
J
J
D000328:Adult; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency; D004198:Disease Susceptibility; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D002542:Intracranial Embolism and Thrombosis / Q000097:blood / Q000209:etiology*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012008:Recurrence; D013924:Thrombophlebitis / Q000097:blood / Q000209:etiology*
D000990:Antithrombin III