Novel fibrinogen Aα chain mutation associated with afibrinogenaemia

A Nonsense Mutation in <i>FGA</i> g.3807C→T (p.R159X) Causes Afibrinogenaemia in the Homozygous Form

“…Until now, only another single case has been reported carrying the same mutation as that described here. It was termed ‘fibrinogen Greelong’ [10], but it is a compound heterozygote for another mutation in the fibrinogen Aα gene, a single deletion of the 1215t nucleotide. In both cases, the afibrinogenaemic phenotype may be ascribed to the early truncation of the Aα chain prior to the completion of the second disulphide ring of the coiled coil that starts at Aα 161 Cys; that ring is a critical requisite for the formation of a stable 3-chained half molecule [11].…”