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 | ||||||||||
HAE-PLG | ||||||||||||
Bork et al. [10]a | c.988A > G | Missense | p.Lys330Glu | 13 | 60 | 13 | 47 | 30.5 ± 15.5 (5–72) (mean ± SD [range]) | 6 | 37 | 4 | Germany |
Germenis et al. [54] | c.988A > G | Missense | p.Lys330Glu | 3 | 4 | 0 | 4 | 40,41,75 (from 3/4 pts) | 1 | 2 | 1 | Greece, Bulgaria, Spain |
Belbezier et al. [55] | c.988A > G | Missense | p.Lys330Glu | 3 | 8 | 2 | 6 | 23 (6–64) (mean [range]) | 2 | 4 | 0 | France |
Yakushiji et al. [56] | c.988A > G | Missense | p.Lys330Glu | 2 | 4 | 1 | 3 | 47.3 (mean) | 0 | 3 | 0 | Japan |
Bodian et al. [49] | c.988A > G | Missense | p.Lys330Glu | 1 | 1 | 0 | 1 | 21 | 0 | 1 | 0 | USA |
Recke et al. [50] | c.988A > G | Missense | p.Lys330Glu | 1 | 6 | 3 | 3 | 20–60 (range) | nr | nr | nr | Germany |
Bork et al. [51] | c.988A > G | Missense | p.Lys330Glu | 1 | 12 | 6 | 6 | 27 (16–56) (mean [range]; from 7/12 pts) | 5 | 1 | 0 | Germany |
Bork et al. [52]b | c.988A > G | Missense | p.Lys330Glu | 9 | 51 | nr | nr | nr | nr | nr | nr | Germany |
HAE-ANGPT1 | ||||||||||||
Bafunno et al. [9] | c.807G > T | Missense | p.Ala119Ser | 1 | 4 | 0 | 4 | “Second decade” | 0 | 4 | 0 | Italy |
HAE-KNG1 | ||||||||||||
Bork et al. [11] | c.1136 T > A | Missense | p.Met379Lys | 1 | 6 | 1 | 5 | 35 ± 16.2 (17–55) (mean ± SD [range])c | 2 | 3 | 0 | Germany |