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Table 1 Overview of reported cases with HAE-nC1-INH and the plasminogen mutation PLG:p.Lys330Glu mutation

From: Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema

Reported families (N) and ethnic origin Males (N)/females (N) Mean age of onset (years) Fatal cases Treatment References
13 German 13/47 30.5 2 female cases ICA, TXA Bork et al. [2]
3 German 7/15 n.a. n.a. n.a. Dewald [3]
1 Greece 3/1 n.a. 1 male case n.a. Germenis et al. [11]
1 Bulgarian      
2 Spanisha      
3 French 2/6 6-64 none TXA Belbézier et al. [12]
2 Japanese 1/3 26-94 none TXA Yakushiji H et al. [13]
1 German 3/4 ~ 20-60 1 female case ICA Present report
  1. All patients shown in this table had the PLG:p.Lys330Glu mutation. Dewald [3] uses a different nomenclature (NM_000301.3:c.1100A > G, p.Lys311Glu) for this mutation. However, the two seemingly different locations correspond to the same amino acid residue A330 (in Uniprot entry P00747-1, GenBank entry NP_000292.1). A311 is the amino acid residue after subtraction of the 19 amino acids long signal peptide (amino acid residues M1-G19). Nucleotide position 1100 and 988 refer to the same position in the sequence of plasminogen transcript 1 (in NBCI RefSeq NM_000301.3). However, 1100 is the position relative to the first nucleotide in the RefSeq entry, while 988 is the position relative to the start codon (nucleotide 113). To follow the more commonly used nomenclature and to adhere to the amino acid and nucleotide positions relative to the coding sequence start as listed in the NCBI database entries, we chose the designation NM_000301.3:c.988A > G (NP_000292.1:p.Lys330Glu)
  2. ICA icatibant, TXA tranexamic acid
  3. aBoth cases carried an additional c.266G > A, p.Arg89Lys mutation in the PLG gene [6]