Table 3.
Genetic studies in large cohorts of pediatric patients with steroid-resistant nephrotic syndrome.
| Trautmann et al., 2015 [3] | Sadowski et al., 2015 [4] | Bierzynska et al., 2017 [2] | Wang et al., 2017 [5] | Warejko et al., 2018 [23] | Nagano et al., 2020 [6] | This Study | |
|---|---|---|---|---|---|---|---|
| Country | International | International | United Kingdom | China | International | Japan | Korea |
| Modality | GP (31 genes) | GP (27 genes) | WES (53 genes) | GP (28 genes) | WES | GP (60 genes) | Sanger/GP (57 genes) c |
| Detection rate a | 277/1174 (23.6%) | 526/1783 (29.5%) | 49/187 (26.2%) | 34/120 (28.3%) | 85/300 (28.3%) | 69/230 (30.0%) | 127/291 (43.6%) |
| Commonly mutated genes b |
NPHS2 138 (49.8%) | NPHS2 177 (33.7%) | NPHS1 14 (28.6%) | COQ8B 8 (23.5%) | NPHS1 13 (15.3%) | WT1 17 (24.6%) | WT1 30 (23.6%) |
| WT1 48 (17.3%) | NPHS1 131 (24.9%) | NPHS2 12 (24.5%) | NPHS1 7 (20.6%) | PLCE1 11 (12.9%) | NPHS1 8 (11.6%) | COQ6 11 (8.7%) | |
| NPHS1 41 (14.8%) | WT1 85 (16.2%) | WT1 4 (8.2%) | WT1 7 (20.6%) | NPHS2 8 (9.4%) | INF2 8 (11.6%) | NPHS1 11 (8.7%) | |
| SMARCAL1 12 (4.3%) | PLCE1 37 (7.0%) | NUP107 4 (8.2%) | NPHS2 4 (11.8%) | SMARCAL1 8 (9.4%) | TRPC6 7 (10.1%) | NUP107 9 (7.1%) | |
| PLCE1 10 (3.6%) | LAMB2 20 (3.8%) | TRPC6 3 (6.1%) | LMX1B 2 (5.9%) | LAMB2 6 (7.1%) | LAMB2 6 (8.7%) | COQ8B 8 (6.3%) |
a Overall detection rate of mutations; b The parentheses denote the percentage of total patients with mutations. c WES (n = 4) and polymerase chain reaction-restriction fragment length polymorphism (n = 3) as well; GP, gene panel; WES, whole-exome sequencing.