Table 2 Clinical features of 52 patients with KCNQ2-related disorder
Patient | Gender | Age at onset (day) | Follow-up time (months) | Development | Variants | Location | Type of variants | GnomAD/1000gnome | Clinvar/HGMD | Reference | Familial targeted variantion study |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 2 | 26 | C | NM_172107:exon15:c.1632 T > G(p.C544W) | C-terminal region | missense | 0/0 | / | / | De novo |
2 | M | 2 | 28 | C | NM_172107:exon8:c.1064A > T(p.D355V) | C-terminal region | missense | 0/0 | / | / | De novo |
3 | F | 10 | 26 | C | NM_172107:exon1:c.205del(p.K69Qfs*51) | N-terminal region | frameshift | 0/0 | Pathogenic/DM | PMID 14985406 | Paternal |
4 | M | 13 | 21 | D | NM_172107:exon4:c.638G > A(p.R213Q) | voltage-sensor helix /S4 | missense | 0/0 | Pathogenic/DM | PMID 22275249 | / |
5 | F | 4 | 25 | B | NM_172107:exon14:c.1609A > T(p.K537X) | C-terminal region | stop_gained | 0/0 | Pathogenic/DM | PMID 24375629 | De novo |
6 | M | 4 | 16 | A | NM_172107:exon4:c.553G > A(p.A185T) | S3 | missense | 0/0 | / | / | De novo |
7 | M | 13 | 30 | C | NM_172107:exon15:c.1657C > T(p.R553W) | C-terminal region | missense | 0/0 | Pathogenic/DM | PMID 23621294 | / |
8 | F | 1 | 12 | A | NM_172107:exon17:c.2127del(p.V710Cfs*155) | C-terminal region | frameshift | 0/0 | Pathogenic/DM | PMID 29655203 | / |
9 | F | 3 | 39 | A | NM_172107:exon13:c.1342C > T(p.R448X) | C-terminal region | stop_gained | 0/0 | Pathogenic/DM | PMID 11690625 | / |
10 | F | 2 | 18 | D | NM_172107:exon4:c.638G > A(p.R213Q) | S4 | missense | 0/0 | Pathogenic/DM | PMID 22275249 | De novo |
11 | F | 4 | 24 | A | NM_172107:exon14:c.1631 + 1G > A | C-terminal region | splice_region | 0/0 | Pathogenic/DM | PMID 25982755 | / |
12 | F | 3 | 40 | A | NM_172107:exon14:c.1601del(p.P534Rfs*31) | C-terminal region | frameshift | 0/0 | Likely Benign/NA | / | De novo |
13 | F | 3 | 39 | B | NM_172107:exon8:c.1040A > G(p.Y347C) | C-terminal region | missense | 0/0 | / | / | De novo |
14 | F | 3 | 50 | A | NM_172107:exon13:c.1452G > A(p.W484X) | C-terminal region | stop_gained | 0/0 | / | / | De novo |
15 | F | 4 | 30 | A | NM_172107:exon8:c.1027G > T(p.A343S) | C-terminal region | missense | 0/0 | / | / | Maternal |
16 | F | 1 | 18 | A | NM_172107:exon2:c.365C > T(p.S122L) | the extracellular domain between the S1 segment and the S2 segment | missense | 0/0 | Pathogenic/DM | PMID 16916607 | / |
17 | F | 7 | 38 | A | NM_172107:exon11:c.1230del(p.P411Rfs*29) | C-terminal region | frameshift | 0/0 | NA/DM | / | Paternal |
18 | M | 9 | 12 | A | NM_172107:exon4:c.668C > T(p.S223F) | Cytoplasmic between S4 segment and S5 segment | missense | 0/0 | / | / | De novo |
19 | F | 3 | 13 | A | NM_172107:exon4:c.620G > A(p.R207Q) | S4 | missense | 0/0 | Pathogenic/DM | PMID 17872363 | De novo |
20 | M | 3 | 16 | A | NM_172107:exon1:c.242 T > C(p.L81P) | N | missense | 0/0 | NA/DM | PMID 29215089 | / |
21 | M | 3 | 42 | A | NM_172107:exon5:c.816 + 1G > A | Pore loop/H5 | splice_region | 0/0 | Likely pathogenic/NA | / | De novo |
22 | M | 2 | 14 | D | NM_172107:exon5:c.794C > T(p.A265V) | H5 | missense | 0/0 | Pathogenic/DM | PMID 22926866 | / |
23 | F | 1 | 15 | D | NM_172107:exon5:c.796G > C(p.D266H) | H5 | missense | 0/0 | / | / | De novo |
24 | M | 2 | 5(deceased) | D | NM_172107:exon5:c.793G > A(p.A265T) | H5 | missense | 0/0 | Pathogenic/DM | PMID 23692823 | / |
25 | M | 12 | 16 | D | NM_172107:exon4:c.617 T > G(p.L206R) | S4 | missense | 0/0 | / | / | De novo |
26 | M | 4 | 49 | B | NM_172107:exon4:c.587C > T(p.A196V) | S4 | missense | 0/0 | Pathogenic/DM | PMID 17475800 | De novo |
27 | M | 2 | 36 | C | NM_172107:exon4:c.637C > T(p.R213W) | S4 | missense | 0/0 | Pathogenic/DM | PMID 18353052 | De novo |
28 | M | 2 | 7 (deceased) | D | NM_172107:exon4:c.629G > A(p.R210H) | S4 | missense | 0/0 | Pathogenic/DM | PMID 24107868 | / |
29 | F | 4 | 28 | D | NM_172107:exon4:c.632 T > G(p.M211R) | S4 | missense | 0/0 | / | / | De novo |
30 | F | 2 | 24 | A | NM_172107:exon7:c.997C > T(p.R333W) | C-terminal region | missense | 0/0 | NA/DM | PMID 16039833 | De novo |
31 | M | 13 | 24 | D | NM_172107:exon5:c.715G > C(p.G239R) | Pore domain/S5 | missense | 0/0 | Pathogenic/DM | PMID 23692823 | De novo |
32 | M | 1 | 12 | C | NM_172107:exon5:c.749 T > G(p.V250G) | S5 | missense | 0/0 | Pathogenic/DM | PMID 11690625 | De novo |
33 | M | 3 | 14 | C | NM_172107:exon5:c.794C > T(p.A265V) | H5 | missense | 0/0 | Pathogenic/DM | PMID 22926866 | De novo |
34 | M | 24 | 12 | D | NM_172107:exon4:c.568A > T(p.N190Y) | the extracellular domains between the S3 segment and the S4 segment | missense | 0/0 | / | / | De novo |
35 | F | 1 | 52 | D | NM_172107:exon5:c.781 T > A(p.F261I) | Pore loop | missense | 0/0 | / | / | De novo |
36 | F | 3 | 14 | D | NM_172107:exon15:c.1678C > T(p.R560W) | C-terminal region | missense | 0/0 | Pathogenic/DM | PMID 22275249 | De novo |
37 | F | 2 | 25 | C | NM_172107:exon15:c.1678C > T(p.R560W) | C-terminal region | missense | 0/0 | Pathogenic/DM | PMID 22275249 | / |
38 | F | 3 | 22 | D | NM_172107:exon15:c.1687G > A(p.D563N) | C-terminal region | missense | 0/0 | Pathogenic/DM | PMID 26007637 | De novo |
39 | F | 1 | 40 | C | NM_172107:exon17:c.2331del(p.E778Rfs*152) | C-terminal region | frameshift | 0/0 | Likely benign-related/NA | / | De novo |
40 | M | 2 | 50 | D | NM_172107:exon8:c.1049A > T(p.N350I) | C-terminal region | missense | 0/0 | Likely pathogenic/NA | / | De novo |
41 | M | 11 | 12 | C | NM_172107:exon15:c.1687G > A(p.D563N) | C-terminal region | missense | 0/0 | Pathogenic/DM | PMID 26007637 | De novo |
42 | M | 3 | 12 | A | NM_172107:exon3:c.484_485delAA(p.K162Vfs*10) | Cytoplasmic between S2 segment and S3 segment | frameshift | 0/0 | / | / | Paternal |
43 | M | 2 | 12 | C | NM_172107:exon6:c.821C > T(p.T274M) | H5 | missense | 0/0 | Pathogenic /DM | PMID 22275249 | / |
44 | M | 1 | 16 | A | NM_172107:exon4:c.650C > T(p.T217I) | S4 | missense | 0/0 | Likely pathogenic/NA | / | De novo |
45 | M | 2 | 12 | C | NM_172107:exon5:c.807G > T(p.W269C) | H5 | missense | 0/0 | NA/DM-related | PMID 14534157 | De novo |
46 | F | 1 | 54 | C | NM_172107:exon5: c.794C > T(p.A265V) | H5 | missense | 0/0 | Pathogenic/DM | PMID 22926866 | De novo |
47 | M | 7 | 37 | C | NM_172107:exon5:c.715G > C(p.G239R) | S5 | missense | 0/0 | Pathogenic/DM | PMID 23692823 | De novo |
48 | F | 2 | 46 | C | NM_172107:exon4:c.602G > A(p.R201H) | S4 | missense | 0/0 | Pathogenic/DM | PMID 23708187 | De novo |
49 | M | 2 | 63 | C | NM_172107: exon4: c.637C > T(p.R213W) | S4 | missense | 0/0 | Pathogenic/DM | PMID 18353052 | De novo |
50 | M | 3 | 12 | C | NM_172107:exon15:c.1678C > T(p.R560W) | C-terminal region | missense | 0/0 | Pathogenic/DM | PMID 22275249 | De novo |
51 | F | 1 | 24 | C | NM_172107:exon5:c.740C > T(p.S247L) | Pore domain/S5 | missense | 0/0 | Pathogenic/Likely pathogenic/DM-related | PMID 16916607 | De novo |
52 | M | 2 | 12 | C | NM_172107:exon6:c.822_831delinsC(p.L275_T277del) | H5 | Microsatellite | 0/0 | NA/DM-related | / | De novo |