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