Identification of a Large Deletion, Spanning Exons 4 to 11 of the
Human Factor XIIIA Gene, in a Factor XIII-Deficient Family
Rashida Anwar,
Krzysztof J.A. Miloszewski, and
Alexander F. Markham
From the Molecular Medicine Unit, Department of Medicine, University
of Leeds, St James's University Hospital, Leeds, UK.
Inherited deficiency of factor XIIIA subunit (FXIIIA) is an
autosomal recessive disorder that is characterized by a life-long bleeding tendency and complications in wound healing. Molecular genetic
studies have shown the deficiency can be due to small sequence changes
within the FXIIIA gene, such as point mutations or microdeletions. On
molecular analysis of the FXIIIA gene in an FXIII-deficient patient, of
United Kingdom origin, we identified a putative homozygous missense
mutation, Arg408Gln. However, the father of this patient is homozygous
normal for arginine at codon 408. Having proved paternity in this
pedigree by microsatellite analysis, we examined the FXIIIA RNA of the
patient by reverse transcriptase-polymerase chain reaction
and found the paternal allele to lack exons 4 through 11 inclusive.
Hence, a huge deletion extending from intron 3 to intron 11 and the
Arg408Gln mutation are jointly responsible for FXIIIA deficiency in
this family. This is the first finding of such a large deletion in the
FXIIIA gene.
Blood, Vol. 91 No. 1 (January 1), 1998:
pp. 149-153
© 1998 by The American Society of Hematology.
