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Thromb Haemost 1999; 82(03): 1097-1099
DOI: 10.1055/s-0037-1614335
Letters to the Editor
Schattauer GmbH

Familial Coagulation Factor V Deficiency Caused by a Novel 4 Base Pair Insertion in the Factor V Gene: Factor V Stanford

J. L. Zehnder
1   From the Departments of Pathology and Medicine (Hematology), Stanford University School of Medicine, Stanford, CA, USA
,
D. D. Hiraki
1   From the Departments of Pathology and Medicine (Hematology), Stanford University School of Medicine, Stanford, CA, USA
,
C. D. Jones
1   From the Departments of Pathology and Medicine (Hematology), Stanford University School of Medicine, Stanford, CA, USA
,
N. Gross
1   From the Departments of Pathology and Medicine (Hematology), Stanford University School of Medicine, Stanford, CA, USA
,
F. C. Grumet
1   From the Departments of Pathology and Medicine (Hematology), Stanford University School of Medicine, Stanford, CA, USA
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Publikationsverlauf

Received 24. Januar 1999

Accepted after revision 26. April 1999

Publikationsdatum:
09. Dezember 2017 (online)

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Summary

An index patient with pseudohomozygosity for factor V Leiden was identified. Each of his two children inherited a different paternal factor V allele; a daughter was heterozygous for factor V Leiden, with 100% factor V activity, and a son was heterozygous for factor V deficiency, with 50% factor V activity. Genomic DNA was obtained from family members, and the 25 factor V exons and flanking intronic regions were sequenced in the proband and confirmed in the children. Within exon 13 of factor V, a 4 base insertion was found at NT 2856 in the proband and son, but not the daughter. This mutation, here designated factor V Stanford, results in a frameshift with loss of a thrombin activation site (R1545V) and premature termination of translation at amino acid 1560.

 

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