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

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.

• Authors: A Prieto, P Tornero, M Rubio, E Fernández-Cruz, C Rodriguez-Sainz
• Journal: Allergy (Allergy) Vol. 64 Issue 2 Pg. 284-6 (Feb 2009) ISSN: 1398-9995 [Electronic] Denmark
• PMID: 19178407 (Publication Type: Case Reports, Journal Article)

Chemical References

• Threonine
• Factor XII
• Lysine

Topics

• Adult
• Amino Acid Substitution (genetics)
• Angioedemas, Hereditary (blood, genetics)
• Factor XII (genetics)
• Female
• Humans
• Lysine (genetics)
• Male
• Mutation, Missense
• Pedigree
• Threonine (genetics)