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Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type
1Allergy Service, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
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.
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