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

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

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 Spanish^a
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

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)
ICA icatibant, TXA tranexamic acid
^aBoth cases carried an additional c.266G > A, p.Arg89Lys mutation in the PLG gene [6]

ISSN: 2045-7022