Novel duplication in the F12 gene in a patient with recurrent angioedema

被引：64

作者：

Kiss, Nora ^{[1
]}

Barabas, Eszter ^{[2
]}

Varnai, Katalin ^{[2
]}

Halasz, Adrien ^{[3
]}

Varga, Lilian Agnes ^{[1
]}

Prohaszka, Zoltan ^{[1
]}

Farkas, Henriette ^{[1
]}

Szilagyi, Agnes ^{[1
]}

机构：

[1] Semmelweis Univ, Dept Internal Med 3, H-1125 Budapest, Hungary

[2] Semmelweis Univ, Dept Lab Med, H-1125 Budapest, Hungary

[3] Flor Ferenc Hosp, Dept Pediat, Kistarcsa, Hungary

来源：

CLINICAL IMMUNOLOGY | 2013年 / 149卷 / 01期

关键词：

Angioedema; Factor XII; Mutation; NORMAL C1 INHIBITOR; HEREDITARY ANGIOEDEMA; NORMAL C1-INHIBITOR; ESTERASE INHIBITOR; MISSENSE MUTATIONS; AFFECTED WOMEN; EDEMA; FEATURES; FAMILY; MEN;

D O I：

10.1016/j.clim.2013.08.001

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

Edema formation is mediated by histamine or bradykinin release and may have several hereditary and acquired causes. In hereditary forms of bradykinin-mediated angioedemas, mutations in the genes encoding C1-inhibitor (SERPING1) as well as coagulation factor XII (F12) have been described. We present a novel F12 gene mutation, a duplication of 18 base pairs (c.892_909dup) in a 37-year-old woman with recurrent angioedema and normal C1-inhibitor level. A single episode of facial edema in the family of the patient showed co-segregation with the mutation. This duplication is causing the repeated presence of 6 amino acids (p.298-303) in the same region of factor XII, as those three mutations described previously in cases of hereditary angioedema with normal C1-INH function. These results may confirm the importance of the proline-rich region of factor XII protein in edema formation. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：142 / 145

页数：4

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