Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation

Jones, David Wynne and Russell, Geoffrey and Allford, Sarah L. and Burdon, Kathryn and Hawkins, Gregory A. and Bowden, Donald W. and Minaee, Sophie and Mumford, Andrew D. (2004) Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation. British Journal of Haematology, 127 (2). pp. 220-223. ISSN 0007-1048. (Access to this publication is restricted)

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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.

Item Type: Article
Uncontrolled keywords: prekallikrein deficiency; contact system; activated partial thromboplastin time; Fletcher factor; gene mutation
Subjects: Q Science
Divisions: Faculties > Science Technology and Medical Studies > School of Biosciences > Biomedical Research Group
Depositing User: Sue Davies
Date Deposited: 19 Dec 2007 17:56
Last Modified: 13 Jun 2014 11:27
Resource URI: http://kar.kent.ac.uk/id/eprint/93 (The current URI for this page, for reference purposes)
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