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Table 3 Mutation, demographics, and gender of patients with HAE-PLG, HAE-ANGPT1, and HAE-KNG1

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  
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
  1. Glu = glutamic acid, HAE-ANGPT1 = HAE with a specific angiopoietin-1 gene mutation, HAE-FXII = HAE with a specific coagulation FXII gene mutation, HAE-KNG1 = HAE with a specific kininogen-1 gene mutation, HAE-PLG = HAE with a specific plasminogen gene mutation, Lys = lysine, Met = methionine, No. = number, Pts = patients, nr = not reported, SD = standard deviation
  2. aThe same families were published later by Dewald [53]
  3. bThis article furthermore contains the patients published by Bork et al. [10]
  4. cRecalculated