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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families

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Veronez, Camila Lopes [1] ; Moreno, Adriana S. [2] ; Constantino-Silva, Rosemeire Navickas [3] ; Maia, Luana S. M. [2] ; Ferriani, Mariana P. L. [2] ; Castro, Fabio F. M. [4] ; Valle, Solange Rodrigues [5] ; Nakamura, Victor Koji [1] ; Cagini, Nathalia [1] ; Goncalves, Rozana Fatima [6] ; Mansour, Eli [7] ; Serpa, Faradiba Sarquis [8] ; Coelho Dias, Gabriela Andrade [9] ; Piccirillo, Miguel Alberto [10] ; Toledo, Eliana [11] ; Bernardes, Marli de Souza [12] ; Cichon, Sven [13, 14, 15] ; Stieber, Christiane [16, 17, 18, 19] ; Arruda, L. Karla [2] ; Pesquero, Joao Bosco [1] ; Grumach, Anete Sevciovic [3]
Total Authors: 21
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[1] Univ Fed Sao Paulo, Dept Biophys, Ctr Res & Mol Diagnost Genet Dis, Sao Paulo, SP - Brazil
[2] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Med, Ribeirao Preto, SP - Brazil
[3] Fac Med ABC, Div Clin Immunol, Santo Andre, SP - Brazil
[4] Univ Sao Paulo, Sch Med, Div Allergy & Clin Immunol, Sao Paulo, SP - Brazil
[5] Fed Univ Rio Janeiro, Cidade Univ, Rio De Janeiro, RJ - Brazil
[6] Private Allergy & Immunol Clin, Belo Horizonte, MG - Brazil
[7] Univ Estadual Campinas, Sch Med, Div Clin Allergy & Immunol, Campinas, SP - Brazil
[8] Santa Casa de Misericordia Vitoria, Sch Med, Vitoria, ES - Brazil
[9] Univ Estado Rio De Janeiro, Div Allergy & Immunol, Rio De Janeiro, RJ - Brazil
[10] Private Allergy & Immunol Clin, Londrina, PR - Brazil
[11] State Univ Sao Jose do Rio Preto, Sch Med, Sao Jose Do Rio Preto, SP - Brazil
[12] Private Allergy & Immunol Clin, Foz Do Iguacu, PR - Brazil
[13] Univ Hosp Basel, Div Med Genet, Basel - Switzerland
[14] Univ Basel, Dept Biomed, Basel - Switzerland
[15] Res Ctr Juelich, Inst Neurosci & Med INM 1, Julich - Germany
[16] Univ Bonn, Sch Med, Inst Human Genet, Bonn - Germany
[17] Univ Hosp Bonn, Bonn - Germany
[18] Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn - Germany
[19] Univ Hosp Bonn, Ctr Rare Dis Bonn, Bonn - Germany
Total Affiliations: 19
Document type: Journal article
Web of Science Citations: 10

BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent. OBJECTIVES: Our aim was to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations. METHODS: We evaluated a group of 195 individuals, which included 102 patients clinically diagnosed with FXII-HAE and their 93 asymptomatic relatives. RESULTS: Genetic analysis revealed that of the 195 subjects, 134 individuals (77.6% females) carried a pathogenic mutation in F12. The T328K substitution was found in 132 individuals, and the c.971\_1018 + 24del72 deletion was found in 2 patients. The mean age at onset of symptoms in patients with FXII-HAE was 21.1 years. The most common symptoms were subcutaneous edema (85.8% of patients), abdominal pain attacks (69.7%), and upper airway edema (32.3%). Of male individuals carrying F12 mutations, 53.3% (16 of 30) were symptomatic. Compared with reports from Europe, fewer female patients (68.6%) reported an influence of estrogen on symptoms. CONCLUSIONS: Our study included a large number of patients with FXII-HAE, and, as the first such study conducted in a South American population, it highlighted significant differences between this and other study populations. The high number of symptomatic males and patients with estrogen-independent FXII-HAE found here suggests that male sex and the absence of a hormonal influence should not discourage clinicians from searching for F12 mutations in cases of HAE with normal C1-INH. (C) 2017 American Academy of Allergy, Asthma \& Immunology. (AU)

FAPESP's process: 11/24142-3 - Plasma kallikrein role in hereditary angioedema: genetics and functional analysis
Grantee:Camila Lopes Veronez
Support type: Scholarships in Brazil - Doctorate
FAPESP's process: 11/23439-2 - Hereditary angioedema: importance of molecular analysis in diagnosis and pathogenesis Among Brazilian families
Grantee:Adriana Santos Moreno
Support type: Scholarships in Brazil - Post-Doctorate
FAPESP's process: 13/02661-4 - Genetics of hereditary angioedema
Grantee:João Bosco Pesquero
Support type: Regular Research Grants
FAPESP's process: 14/27198-8 - Establishment of a center of genetic and molecular research for clinical challenges
Grantee:João Bosco Pesquero
Support type: Research Projects - Thematic Grants