Table 2 The gene mutation information of patients with primary periodic paralysis
From: Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
Patients No. | Gene | Mutation | Exon | Structural position | reported | Variant classification (ACMG) | Variant source | Family history | Methods |
|---|---|---|---|---|---|---|---|---|---|
1 | SCN4A | c.2024G > A (p.Arg675Gln) | 13 | DII-S4 | reported [45] | P(PS1 + PS3 + PM1 + PM2 + PP3) | Father | - | WES |
2 | SCN4A | c.2024G > A (p.Arg675Gln) | 13 | DII-S4 | reported [45] | P(PS1 + PS3 + PM1 + PM2 + PP3) | Mother | + | WES |
3 | SCN4A | c.2024G > A (p.Arg675Gln) | 13 | DII-S4 | reported [45] | P(PS1 + PS3 + PM1 + PM2 + PP3) | Father | - | WES |
4 | SCN4A | c.2024G > A (p.Arg675Gln) | 13 | DII-S4 | reported [45] | P(PS1 + PS3 + PM1 + PM2 + PP3) | Mother | - | Panel |
5 | SCN4A | c.2111 C > T (p.Thr704Met) | 13 | DII-S5 | reported [50] | P(PS4 + PM1 + PM2 + PP3) | Father | + | WES |
6 | SCN4A | c.2143G > A (p.Ala715Thr) | 13 | DII-S5 | reported [38] | LP(PM1 + PM2 + PM5 + PP3) | UN | - | WES |
7 | SCN4A | c.4774 A > G (p.Met1592Val) | 24 | DIV-S6 | reported [39] | P(PS1 + PS3 + PM1 + PM2 + PP3) | Father | + | Panel |
8 | SCN4A | c.2015G > A (p.Arg672His) | 12 | DII-S4 | reported [27] | P(PS1 + PS3 + PM1 + PM2 + PP3) | Mother | + | Panel |
9 | SCN4A | c.664 C > T (p.Arg222Trp) | 5 | DI-S4 | reported [12] | P(PS1 + PS3 + PM1 + PM2 + PP3) | Mother | - | Panel |
10 | SCN4A | c.4183 A > G (p.Ile1395Val) | 23 | DIV-S2 | unreported | VUS(PM1 + PM2) | UN | - | WES |
11 | SCN4A | c.1414 C > A (p.Leu472Ile) | 9 | Cyto | unreported | VUS(PM2) | UN | - | WES |
12 | SCN4A | c.2020-5G > A (p.Leu673_Leu674insGln) | 13 | DII-S4 | unreported | LP(PS4 + PM2 + PP3) | Father | + | WES |
13 | SCN4A | c.2020-5G > A (p.Leu673_Leu674insGln) | 13 | DII-S4 | unreported | LP(PS4 + PM2 + PP3) | UN | - | WES |
14 | SCN4A | c.2014 C > T(Arg672Cys) | 12 | DII-S4 | reported [36] | LP(PM1 + PM2 + PP3 + PP4) | Mother | + | WES |
15 | SCN4A | c.1354G > A(p.Glu452Lys) | 9 | Cyto | reported [40] | LP(PM1 + PM2 + PP3 + PP4) | UN | - | WES |
16 | SCN4A | c.3404G > A(p.R1135H) | 18 | DIII-S4 | reported [12] | P(PM1 + PM2 + PS4_S + PS3_S + PP3 + PP4) | Father | + | WES |
17 | CACNA1S | c.3716G > A (p.Arg1239His) | 30 | DIV-S4 | reported [29] | P(PS4 + PM1 + PM2 + PP5 + PP3) | Mother | + | Panel |
18 | CACNA1S | c.3716G > A (p.Arg1239His) | 30 | DIV-S4 | reported [29] | P(PS4 + PM1 + PM2 + PP5 + PP3) | UN | - | WES |
19 | CACNA1S | c.1408G > A(p.V470M) | 11 | DII-S2 | reported [41] | VUS(PM2 + PP3) | Mother | - | panel |
20 | CACNA1S | c.1582 C > T(p.R528C) | 11 | DII-S4 | reported [30] | LP(PM1 + PM2 + PM5 + PP3 + PP1) | Father | + | WES |
21 | CACNA1S | c.704 C > T(p.Ala235Val) | 6 | EX(extracellular) | unreported | LP(PM1 + PM2 + PP3 + PP4) | UN | - | WES |
22 | CACNA1S | c.3905G > A (p.Arg1302Gln) | 32 | EX(extracellular) | unreported | VUS(PM1 + PM2 + PP3) | UN | - | WES |