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Blood, 15 January 2002, Vol. 99, No. 2, pp. 702-705
BRIEF REPORT
Severe coagulation factor V deficiency caused by 2 novel
frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of
factor 5 gene
Éva Ajzner,
István Balogh,
Teréz Szabó,
Anikó Marosi,
Gizella Haramura, and
László Muszbek
From the Department of Clinical Biochemistry and
Molecular Pathology, University of Debrecen, Medical and Health Science
Center, Hungary; the Central Laboratory; and the Department of
Hematology, Heim Pál Children's Hospital, Budapest, Hungary.
A male infant with severe bleeding tendency had undetectable
factor V activity. Sequence analysis of the proband's DNA revealed one
base deletion in exon 13 (2952delT) and one base insertion in exon 16 (5493insG) in heterozygous form. Both mutations introduced a frameshift
and a premature stop at codons 930 and 1776, respectively. The
proband's father and mother were heterozygous for 2952delT and for
5493insG, respectively. Both mutations would result in the synthesis of
truncated proteins lacking complete light chain or its C-terminal part.
In the patient's plasma, no factor V light chain was detected by
enzyme-linked immunosorbent assay. The N-terminal portion of factor V
containing the heavy chain, and the connecting B domain was severely
reduced but detectable (1.7%). A small amount of truncated factor
V-specific protein with a molecular weight ratio of 236 kd
could be immunoprecipitated from the plasma and detected by Western
blotting. This protein, factor VDebrecen, corresponds to
the translated product of exon 16 mutant allele.
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