Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford.

Abstract:

: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.

journal_name

Thromb Haemost

authors

Zehnder JL,Hiraki DD,Jones CD,Gross N,Grumet FC

keywords:

subject

Has Abstract

pub_date

1999-09-01 00:00:00

pages

1097-9

issue

3

eissn

0340-6245

issn

2567-689X

pii

99091097

journal_volume

82

pub_type

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