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Blood, 15 December 2000, Vol. 96, No. 13, pp. 4370-4372

BRIEF REPORT

A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency

Josephine A. Carew, Eleanor S. Pollak, Stanislaw Lopaciuk, and Kenneth A. Bauer

From the Hematology-Oncology Section, Boston VA Healthcare System, and Department of Medicine, Harvard Medical School, Boston, MA; Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA; and the Laboratory of Blood Coagulation, Institute of Hematology and Blood Transfusion, Warsaw, Poland.

Investigation of the molecular basis of a severe factor VII (fVII) deficiency revealed compound heterozygosity in the fVII gene. On the paternal allele the patient had 3 structural gene abnormalities frequently associated with fVII deficiency. A new mutation, a C to T transition at position -55 relative to the translational start site, was found on the maternal allele. The study demonstrates that this mutation partially impeded binding of the transcriptional activator, hepatic nuclear factor 4, to the fVII promoter while greatly reducing reporter gene expression in hepatic cells.

© 2000 by The American Society of Hematology.
 

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