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Table 2 Cases of clinically affected patients/families with HAE-FXII (gender, age of onset, impact of estrogen)

From: Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Described by Nucleotide change Type of mutation Protein change No. of families No. of patients No. of males No. of females Age of onset (years) No. of females impacted by estrogens Origin of patients
Clear impact No impact Not exposed
Bork et al. [13]a c.983C > A Missense p.Thr328Lys 23 69 1 68 20.3 ± 9.2 (mean ± SD) 48 10 10 Germany, Turkey, Brazil
c.983C > G Missense p.Thr328Arg
c.971_1018 + 24del72 Deletion Indel
Cichon et al. [16] c.983C > A Missense p.Thr328Lys 1 4 0 4 nr nr nr nr France
Martin et al. [17] c.983C > A Missense p.Thr328Lys 1 4 2 2 nr 2 0 0 France
Bouillet et al. [18] c.983C > A Missense p.Thr328Lys 1 2 0 2 19 (from 1/2 pts) 2 0 0 France
Bell et al. [19] c.983C > A Missense p.Thr328Lys 1 1 0 1 20 0 1 0 Australia
Duan et al. [20]b c.983C > A Missense p.Thr328Lys 1 7 0 7 nr 7 0 0 Italy
Prieto et al. [21] c.983C > A Missense p.Thr328Lys 1 4 0 4 35 (from 1/4 pts) 4 0 0 Spain
Hentges et al. [22] c.983C > A Missense p.Thr328Lys 1 1 0 1 nr 1 0 0 Luxembourg
Nagy et al. [23] c.983C > A Missense p.Thr328Lys 1 3 0 3 nr 2 1 0 Italy
Picone et al. [24] c.983C > A Missense p.Thr328Lys 2 5 0 5 nr 3 2 0 France
Baeza et al. [25] c.983C > A Missense p.Thr328Lys 1 3 0 3 20 (from 1/3 pts) 3 0 0 Morroco
Marcos et al. [26] c.983C > A Missense p.Thr328Lys 13 29 3 26 23.9 (14–55) (mean[range]) 25 1 0 Spain
Kiss et al. [15] c.892_909dup Duplication p.Pro298_Pro303dup 1 1 0 1 35 0 1 0 Hungary
Gomez-Traseira et al. [27] c.983C > A Missense p.Thr328Lys 1 5 0 5 22.8 (mean) 5 0 0 Spain
Charignon et al. [28] c.983C > A Missense p.Thr328Lys 40 80 8 72 24.3 (mean; from 69/80 pts)e nr nr nr France, Spain
Moreno et al. [29] c.983C > A Missense p.Thr328Lys 4 8 1 7 13.9 (mean)e 7 0 0 Brazil
Mansi et al. [30] c.983C > A Missense p.Thr328Lys 3 3 nr nr nr nr nr nr Italy
Stieber et al. [31] c.983C > A Missense p.Thr328Lys 1 12 0 12 27 (mean; from 7/12 pts)e 4 nr nr Brazil
Moreno et al. [32] c.983C > A Missense p.Thr328Lys 1 1 0 1 16 1 0 0 Brazil
Deroux et al. [33] c.983C > A Missense p.Thr328Lys 24 37 1 36 21. ± 7.27 (mean ± SD)e 32 4 0 France
Grumach et al. [34] c.983C > A Missense p.Thr328Lys 2 14 4 10 27.7 (mean; from 12/14 pts) 8 2 0 Brazil
Piñero-Saavedra et al. [35] c.983C > A Missense p.Thr328Lys 9 24 3 21 19.9 (mean; from 16/21 f); 61.5 (mean; from 2/3 m) 19 nr nr Spain
Bork et al. [36]c c.983C > A Missense p.Thr328Lys 1 4 0 4 nr nr nr nr Germany
Veronez et al. [37] c.971_1018 + 24del72 Deletion Indel 1 1 1 0 68 0 0 1f Brazil
Veronez et al. [38] c.983C > A Missense p.Thr328Lys 41 101 15 86 21.1 ± 11.7 (2–68) (mean ± SD [range]) 59 nr nr Brazil
Bova et al. [39]d c.983C > A Missense p.Thr328Lys 9 23 0 23 21 (5–76) (median [range]) 20 3 0 Italy
  1. C1-INH = C1 esterase inhibitor, F = females, FXII = coagulation factor XII, Indel = insertion/deletion, Lys = lysine, M = males, No. = Number; nr = not reported, Pro = proline, pts = patients, SD = standard deviation, Thr = threonine
  2. aArticle also includes all patients described in Dewald and Bork [7], Bork et al. [8], Bork et al. [14], Bork et al. [40], and Bork et al. [41]
  3. bThis family has been described by Binkley and Davis [5]
  4. cBesides the here mentioned family, this article includes patients published in [13]
  5. dThis article includes a patient series published by Firinu et al. [42]
  6. eRecalculated
  7. f1 male patient exposed to an ACE inhibitor [37]