N Engl J Med. 2009 Oct 22;361(17):1671-5. doi: 10.1056/NEJMoa0904377.

X-linked thrombophilia with a mutant factor IX (factor IX Padua).

Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP, Finn JD, Spiezia L, Radu C, Arruda VR.

Source

Department of Cardiologic, Thoracic and Vascular Sciences, University of Padua Medical School, Padua, Italy. paolo.simioni@unipd.it

Abstract

We report a case of juvenile thrombophilia associated with a substitution of leucine for arginine at position 338 (R338L) in the factor IX gene (factor IX-R338L). The level of the mutant factor IX protein in plasma was normal, but the clotting activity of factor IX from the proband was approximately eight times the normal level. In vitro, recombinant factor IX-R338L had a specific activity that was 5 to 10 times as high as that in the recombinant wild-type factor IX. The R338 substitution causes a gain-of-function mutation, resulting in factor IX that is hyperfunctional.

2009 Massachusetts Medical Society

Comment in

Prevalence of Factor IX-R338L (Factor IX Padua) in a cohort of patients with venous thromboembolism and mild elevation of factor IX levels. [Thromb Res. 2010]
Prevalence of Factor IX-R338L (Factor IX Padua) in a cohort of patients with venous thromboembolism and mild elevation of factor IX levels.Mazetto Bde M, Orsi FL, Siqueira LH, de Mello TB, de Paula EV, Annichino-Bizzacchi JM. Thromb Res. 2010 Aug; 126(2):e165. Epub 2010 Jun 1.

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Factor IX

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P01 HL64910/HL/NHLBI NIH HHS/United States

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X-linked thrombophilia with a mutant factor IX (factor IX Padua).
X-linked thrombophilia with a mutant factor IX (factor IX Padua).
N Engl J Med. 2009 Oct 22 ;361(17):1671-5. doi: 10.1056/NEJMoa0904377.

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