Biochemical and Biophysical Research Communications
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor
Section snippets
Materials and methods
Study subjects. Twenty unrelated patients, all female and of German origin, were studied. All patients had experienced recurrent angioedema attacks, had one or more affected relatives (also exclusively women), and showed normal C1 inhibitor measurements. For several of these index patients, various numbers of family members could be included in the study. One hundred and forty-five healthy blood donors of German origin served as controls. Informed consent was provided by all subjects, and
Results and discussion
The 14 exons and splice junctions of the F12 gene [11] were screened in 20 unrelated patients by PCR amplification and bidirectional sequencing. Aside from several known polymorphic variants, two different non-conservative missense mutations were identified in exon 9 (Fig. 1). Both mutations are located in exactly the same position, namely in the second position of the codon (ACG) encoding amino acid residue 309 of the mature protein, a threonine residue. ‘Mutation 1’ (1032C → A), encountered in
References (14)
- et al.
Angioedema
J. Am. Acad. Dermatol.
(2005) Molecular genetics of C1 inhibitor
Immunobiology
(1998)- et al.
Detection of C1 inhibitor mutations in patients with hereditary angioedema
J. Allergy Clin. Immunol.
(2000) - et al.
A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations
Clin. Immunol.
(2001) - et al.
Hereditary angioedema with normal C1-inhibitor in women
Lancet
(2000) - et al.
Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema
J. Allergy Clin. Immunol.
(2000) - et al.
Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy
Am. J. Med.
(2003)
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