Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene

Table 1 Patients’ clinical and genetic characteristics

Proband number	Age	Gender	C1-INH antigenic levels (g/L)	CDS	Molecule effects	Exon	References
1	53	Female	0.03	c.44 delT	p.L15Rfs78 ×	Exon 2
2	30	Female	0.09	c.289 C>T	p.Q97 ×	Exon 3	[19]
3	25	Female	0.04	c.296_303 delCCATCCAA	p.T99fs129 ×	Exon 3	[19]
4	30	Male	0.05	c.538 C>T	p.Q180 ×	Exon 3
5	52	Female	0.04	c.786-787insT	p.N263Qfs296 ×	Exon 5
6	46	Female	0.04	c.794 G>A	p.W265 ×	Exon 5
7	50	Male	0.04	c.939 delT	p.H314Tfs320 ×	Exon 6
8	42	Female	0.09	c.1214-1223 delCCAGCCAGGA	p.T405Ifs427 ×	Exon 7
9	81	Male	0.08	c.1279 delC	p.L426fs428 ×	Exon 8	[19]

ISSN: 2045-7022