International cohort of 526 of the 1783 families, in whom a single-gene cause of SRNS was detected in 1 of 21 monogenic causes of SRNS (27 genes examined)
| Gene Causing SRNS | Mode of Inheritance | SRNS Families Molecularly Diagnosed by Sanger Sequencing (Published Previously), na | SRNS Families Molecularly Diagnosed by Multiplex PCR (n) | Total SRNS Families with Molecular Diagnosis (% of Families) |
|---|---|---|---|---|
| NPHS2 | AR | 170 (42) | 7 | 177 (9.93) |
| NPHS1 | AR | 93 (61) | 38 | 131 (7.34) |
| WT1 | AD | 78 (50) | 7 | 85 (4.77) |
| PLCE1 | AR | 23 (16) | 14 | 37 (2.17) |
| LAMB2 | AR | 10 (6) | 10 | 20 (1.12) |
| SMARCAL1 | AR | 1 (0) | 15 | 16 (0.89) |
| INF2 | AD | 2 (0) | 7 | 9 (0.5) |
| TRPC6 | AD | 1 (1) | 8 | 9 (0.53) |
| COQ6 | AR | 6 (5) | 2 | 8 (0.45) |
| ITGA3 | AR | 3 (3) | 2 | 5 (0.28) |
| MYO1E | AR | 0 (0) | 5 | 5 (0.28) |
| CUBN | AR | 1 (1) | 4 | 5 (0.28) |
| COQ2 | AR | 0 (0) | 4 | 4 (0.22) |
| LMX1B | AD | 0 (0) | 4 | 4 (0.22) |
| ADCK4 | AR | 3 (3) | 0 | 3 (0.17) |
| DGKE1 | AR | 0 (0) | 2 | 2 (0.11) |
| PDSS2 | AR | 0 (0) | 2 | 2 (0.11) |
| ARHGAP24 | AD | 0 (0) | 1 | 1 (0.06) |
| ARHGDIA | AR | 1 (1) | 0 | 1 (0.06) |
| CFH | AR | 0 (0) | 1 | 1 (0.06) |
| ITGB4 | AR | 0 (0) | 1 | 1 (0.06) |
| Total | 392 (189) | 134 | 526 (29.5) |
AD, autosomal dominant; AR, autosomal recessive.
↵a Number in parenthesis show “molecularly solved” families with causative mutation detected that were published before from our cohort (see literature).