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

Kiss, Nóra; Barabás, Eszter; Várnai, Katalin; Halász, A; Varga, Lilian; Prohászka, Zoltán; Szilágyi, Ágnes

doi:10.1016/j.clim.2013.08.001

Cited by 70 publications

(48 citation statements)

References 18 publications

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“…Depending on the series, the prevalence of the FXII mutation within HAE families without C1-INH deficiency would be in the order of 20-24Á5% [10,11]. Other FXII mutations have been described recently in Turkish (deletion c.971_1018 1 24del72) and Caucasian (c.892_909dup) families [12]. Nevertheless, the p.Thr309Lys mutation remains the most common [6].…”

Section: Introductionmentioning

confidence: 99%

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema

Deroux

Boccon‐Gibod

Fain

et al. 2016

Clinical and Experimental Immunology

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SummaryHereditary angioedema (HAE) is a rare disease associated with either a quantitative or qualitative deficiency in C1-inhibitor (C1-INH) or normal C1-INH. HAE with normal C1-INH is associated in 20% of cases with mutations in the gene for factor XII (FXII) or FXII-HAE. A recent review described 41 families, including 14 German and 15 Spanish families. We have constructed a register of French patients and their characteristics. A national survey was launched through the French National Center of Reference for Angioedema (CREAK) to study the clinical, biological and therapeutic characteristics of patients with HAE linked to a mutation of FXII gene. Fifty-seven patients were identified from 24 different families. In most cases they were young women (mean age at diagnosis: 31 years, mean age at first symptom: 21 years, female/male ratio: 76%). Twenty-one per cent of the patients experienced angioedema attacks only during pregnancy or when on oestrogen contraception. Sixty-three per cent had attacks at all times, but they were more severe during these same periods. Male carriers of the mutation were more frequently asymptomatic than females (P 5 0Á003). C1-INH concentrate and icatibant were both effective for treating attacks. The prophylactic use of tranexamic acid led to a 64% decrease in the number of attacks. This is one of the largest series reported of HAE patients with FXII mutation. The therapeutic management appeared to be identical to that of HAE with C1-INH deficiency.

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Section: Introductionmentioning

confidence: 99%

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema

Deroux

Boccon‐Gibod

Fain

et al. 2016

Clinical and Experimental Immunology

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“…In the last few years, two additional mutations in the F12 gene also located in exon 9 have been reported in patients with HAE: a deletion of 72 base pairs (bp, i.e. c.971_1018 +24 del72) [11] and a duplication of 18 bp (p.Pro298_Pro303dup) [12]. Initially known as HAE type III, HAE with normal C1-INH is currently classified into two subgroups: HAE with normal C1-INH and factor XII mutation (FXII-HAE) and HAE with normal C1-INH of unknown origin (U-HAE) [2].…”

Section: Introductionmentioning

confidence: 99%

Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor

Moreno¹,

Valle

Levy

et al. 2015

Int Arch Allergy Immunol

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Background: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare disorder. Mutations of the gene encoding coagulation factor XII have been identified in a subset of patients with this condition. Our aim was to investigate mutations in the F12 gene in patients with HAE with normal C1-INH from Brazil. Methods: We studied 5 Brazilian families with index female patients who presented with recurrent angioedema with normal C1-INH and C4 levels. Genomic DNA was isolated from whole blood and PCR was performed. Mutations were detected by the sequencing of exon 9 of the F12 gene and allelic discrimination. Results: The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women). Mean age at onset of symptoms among the FXII-HAE patients was 13.8 years (range 6-25 years). Recurrent abdominal pain (100%) and subcutaneous angioedema (87.5%) were the most frequent clinical presentations. Two patients presented with associated laryngeal edema. In keeping with previous observations in patients with both C1-INH-HAE and HAE with normal C1-INH, all 7 women with FXII-HAE reported triggering or worsening of symptoms upon intake of estrogen-containing oral contraceptives and/or pregnancy. Conclusions: We report for the first time in Brazil a mutation in the F12 gene as a likely cause of HAE with normal C1-INH in patients with recurrent attacks of angioedema and/or abdominal pain. A higher frequency of abdominal pain attacks and onset of symptoms at a younger age were observed among Brazilian patients when compared to those from other parts of the world.

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“…4e6 However, there are few reports on the role of sCD30 in activity of asthma 4 or on the effect of intervention on sCD30 levels. 5 Soluble CD26 and sCD30 are age dependent, with serum levels of sCD26 increasing until adolescence and sCD30 decreasing throughout childhood. 7 These factors should be taken into account when evaluating the potential clinical utility of these markers.…”

Section: Iis Hospital La Fementioning

confidence: 99%