3.2 Genetics
SERPING1 analysis identified 24 different variants: 9 missense
(37.5%), 2 nonsense (8.3%), 1 large deletion (4.2%), 6 frameshift
(25%) and 6 splicing defects (25%) (figure 2). Seven variants were not
reported previously (table 2) [3]: 4 frameshift variants, 2 in exon
3 (c.387_388delCT and c.520_524delATCGC), 1 in exon 5
(c.744_745delCA) and 1 in exon 8 (c.1293delA), and 3 missense variants,
1 in exon 6 (c.1001A>C) and 2 in exon 7
(c.1037A>C and c.1202T>C). Variants are
described in relation to Reference Sequence NM_000062.2. All subjects
were heterozygous for the mutations identified. De novo variants
were found in 11 patients (17.2%).