Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III

Authors: Prieto, A.¹; Tornero, P.¹; Rubio, M.¹; Fernández-Cruz, E.²; Rodriguez-Sainz, C.²

Source: Allergy, Volume 64, Number 2, February 2009 , pp. 284-286(3)

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Abstract:

Background:

A new type of hereditary angioedema (type III) affecting mainly women with normal C1-inhibitor level and function has been described. Exposition to estrogens is an important precipitating factor. Recently, a missense mutation in the gene of the blood coagulation factor XII (Hageman factor) has been reported in a few families with this type of hereditary angioedema. Aim:

To study a patient and her family with recurrent swelling attacks during pregnancy. Methods:

Complement factors C3 and C4 as well as C1-inhibitor level and function were determined. Genomic DNA was isolated from venous blood samples and screened for mutations in the coagulation factor XII gene. Results:

C3 and C4 levels as well as C1-inhibitor level and function were normal. A missense mutation Thr309Lys was identified in factor XII gene with a heterozygotic pattern. This mutation was also identified in the mother of the patient, her daughter and her son. Conclusion:

These results support that the mentioned mutation in factor XII gene causes hereditary angioedema type III.

Keywords: coagulation factor XII; hereditary angioedema type III; missense mutation

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1398-9995.2008.01764.x

Affiliations: 1: Allergy Service 2: Immunology Service, Hospital General Universitario Gregorio Marañón, Madrid, Spain

Publication date: 2009-02-01