Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation.

Abstract:

:An elderly patient with no abnormal bleeding presented with prolongation of the activated partial thromboplastin time (aPTT). Preincubation of plasma with aPTT reagent caused shortening of the abnormal clotting time. Plasma prekallikrein (PK) activity and antigen were <5 u/dL. Molecular analysis showed a homozygous Arg94Stop substitution in the PK gene, predicted to prevent expression of the mutant allele. The five heterozygous offspring of the proband each showed a normal aPTT but reduced PK activity and antigen. This is the first description of a kindred in which absence of expression of one or both PK alleles has been confirmed by genotype.

journal_name

Br J Haematol

authors

Wynne Jones D,Russell G,Allford SL,Burdon K,Hawkins GA,Bowden DW,Minaee S,Mumford AD

doi

10.1111/j.1365-2141.2004.05180.x

subject

Has Abstract

pub_date

2004-10-01 00:00:00

pages

220-3

issue

2

eissn

0007-1048

issn

1365-2141

pii

BJH5180

journal_volume

127

pub_type

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