Table 2.
Mutation screening results.
| Gene | Mode of Inheritance | No. of Patients (%) |
% of Total Patients (n = 291) |
|---|---|---|---|
| SRNS/FSGS gene | |||
| WT1 | AD | 30 (23.6%) | 10.3% |
| COQ6 | AR | 11 (8.7%) | 3.8% |
| NPHS1 | AR | 11 (8.7%) | 3.8% |
| NUP107 | AR | 9 (7.1%) | 3.1% |
| COQ8B | AR | 8 (6.3%) | 2.7% |
| MYH9 | AD | 6 (4.7%) | 2.1% |
| INF2 | AD | 6 (4.7%) | 2.1% |
| PAX2 | AD | 5 (3.9%) | 1.7% |
| NPHS2 | AR | 4 (3.1%) | 1.4% |
| MAFB | AD | 4 (3.1%) | 1.4% |
| LAMB2 | AR | 3 (2.4%) | 1.0% |
| SMARCAL1 | AR | 3 (2.4%) | 1.0% |
| MT-TL1 | Mitochondrial | 3 (2.4%) | 1.0% |
| ACTN4 | AD | 1 (0.8%) | 0.3% |
| LMX1B | AD | 1 (0.8%) | 0.3% |
| ANLN | AD | 1 (0.8%) | 0.3% |
| TRPC6 | AD | 1 (0.8%) | 0.3% |
| TP53RK | AR | 1 (0.8%) | 0.3% |
| PODXL | AR | 1 (0.8%) | 0.3% |
| DGKE | AR | 1 (0.8%) | 0.3% |
| FOXP3 | X-linked | 1 (0.8%) | 0.3% |
|
LCAT
COQ2 |
AR AR |
1 (0.8%) 1 (0.8%) |
0.3% 0.3% |
| Subtotal | 113 (89.0%) | 38.8% | |
| Phenocopying gene | |||
| COL4A5 | X-linked | 6 (4.7%) | 2.1% |
| COL4A4 | AD/AR | 4 (3.1%) | 1.4% |
| WDR19 | AR | 3 (2.4%) | 1.0% |
| COL4A3 | AD | 1 (0.8%) | 0.3% |
| Subtotal | 14 (11.0%) | 4.8% | |
| Total | 127 (100%) | 43.6% | |
AD, autosomal dominant; AR, autosomal recessive.