Table S2.
Genotypes and phenotypes of patients with disease-causing mutations.
| Gene | Patient ID | Mutations | Age at Onset (Years) | Sex b | Family History | Mode of Onset | Kidney Biopsy | Renal Outcome | Time to ESRD (Years) |
|---|---|---|---|---|---|---|---|---|---|
| WT1 (REFSEQ: NM_024426.5) | |||||||||
| SRNS-20 | c.1400G > A, p.R467Q | At birth | M | N | NS | ND | ESRD | 0.1 | |
| SRNS-42 | c.1136delT, p.V379Dfs a | 6.5 | M | N | PU | FSGS | ESRD | 2.7 | |
| SRNS-126 | c.1231C > T, p.H411Y a | 1.5 | F | N | NS | FSGS | ESRD | 7.3 | |
| SRNS-151 | c.1315C > T, p.R439C | At birth | M | N | NS | ND | ESRD | 0.0 | |
| SRNS-156 | c.760C > A, p.P254T a | 3.3 | M | N | NS | FSGS | ESRD | 6.1 | |
| SRNS-186 | c.1363C > T, p.P455S | 8.0 | M | Y | NS | FSGS | Normal eGFR | NA | |
| SRNS-222 | c.1316G > A, p.R439H | At birth | M | N | NS | FSGS | ESRD | 0.4 | |
| SRNS-223 | c.1316G > A, p.R439H | At birth | F | N | NS | DMS | ESRD | 0.0 | |
| SRNS-224 | c.1316G > A, p.R439H | At birth | F | N | NS | FSGS | Death | NA | |
| SRNS-225 | c.1316G > A, p.R439H | At birth | F | N | NS | ND | ESRD | 0.0 | |
| SRNS-226 | c.1316G > C, p.R439P | At birth | M | NA | PU | ND | ESRD | 1.8 | |
| SRNS-227 | c.1315C > T, p.R439C | At birth | F | N | NS | ND | ESRD | 0.0 | |
| SRNS-228 | c.1324C > A, p.Q442K | 1.0 | F | N | ESRD | ND | ESRD | 0.0 | |
| SRNS-229 | c.1372T > A, p.C458S | At birth | M | N | NS | DMS | ESRD | 1.1 | |
| SRNS-230 | c.1399C > T, p.R467W | At birth | M | N | PU | DMS | ESRD | 1.8 | |
| SRNS-231 | c.1405G > T, p.D469Y | At birth | F | NA | NS | DMS | ESRD | 0.0 | |
| SRNS-232 | c.785 − 1G > C in intron 2 a | NA | M | NA | NA | ND | NA | NA | |
| SRNS-233 | c.1447 + 4C > T in intron 9 | 6.6 | F | N | NS | FSGS | CKD | NA | |
| SRNS-234 | c.1447 + 4C > T in intron 9 | 2.6 | F | N | NS | FSGS | Normal eGFR | NA | |
| SRNS-235 | c.1447 + 4C > T in intron 9 | 3.5 | M | N | ESRD | ND | ESRD | 0.0 | |
| SRNS-236 | c.1447 + 4C > T in intron 9 | 6.8 | M | N | NS | MesPGN | ESRD | 15.4 | |
| SRNS-237 | c.1447 + 4C > T in intron 9 | At birth | F | N | CKD | ND | ESRD | 0.7 | |
| SRNS-238 | c.1447 + 5G > A in intron 9 | At birth | M | N | PU | FSGS | ESRD | 19.7 | |
| SRNS-239 | c.1447 + 5G > A in intron 9 | 5.0 | F | N | NS | FSGS | ESRD | 4.2 | |
| SRNS-240 | c.1447 + 5G > A in intron 9 | 6.8 | F | N | PU | FSGS | ESRD | 12.9 | |
| SRNS-241 | c.1447 + 5G > A in intron 9 | 11.4 | M | N | CKD | FSGS | ESRD | 0.3 | |
| SRNS-242 | c.1447 + 5G > A in intron 9 | 12.3 | M | N | PU | FSGS | Normal eGFR | NA | |
| SRNS-243 | c.1419_1430del12, p.H474_T477del a | At birth | M | N | ESRD | ND | ESRD | 0.0 | |
| SRNS-244 | c.1381T > C, p.C461R | 2.2 | F | N | ESRD | MesPGN | ESRD | 0.0 | |
| SRNS-245 | c.1297T > C, p.C433R | At birth | F | N | ESRD | ND | ESRD | 0.0 | |
| COQ6 (REFSEQ: NM_182476.2) | |||||||||
| SRNS-61 | c.686A > C, p.Q229P c.782C > T, p.P261L |
1.1 | M | N | PU | FSGS | Normal eGFR | NA | |
| SRNS-103 | c.124G > T, p.G42C a
c. 782C > T, p.P261L |
At birth | F | N | NS | FSGS | ESRD | 0.4 | |
| SRNS-203 | c.484C > T, p.R162* c.782C > T, p.P261L |
9.1 | M | N | PU | FSGS | ESRD | 0.8 | |
| SRNS-251 | c.189_191del3, p.K64del c.782C > T, p.P261L |
3.9 | M | N | NS | FSGS | ESRD | 2.2 | |
| SRNS-252 | c.189_191del3, p.K64del c.686A > C, p.Q229P |
2.0 | F | N | NS | FSGS | ESRD | 1.1 | |
| SRNS-253 | c.189_191del3, p.K64del c.782C > T, p.P261L |
3.9 | F | N | NS | FSGS | ESRD | 0.1 | |
| SRNS-254 | c.189_191del3, p.K64del c.782C > T, p.P261L |
2.7 | F | N | NS | FSGS | ESRD | 1.9 | |
| SRNS-255 | c.189_191del3, p.K64del c.782C > T, p.P261L |
1.2 | F | Y | NS | FSGS | ESRD | 0.1 | |
| SRNS-256 | c.189_191del3, p.K64del c.782C > T, p.P261L |
3.1 | M | N | NS | FSGS | ESRD | 0.4 | |
| SRNS-257 | c.686A > C, p.Q229P c.782C > T, p.P261L |
At birth | M | N | NS | FSGS | ESRD | 1.7 | |
| SRNS-258 | c.189_191del3, p.K64del c.782C > T, p.P261L |
1.1 | M | N | NS | FSGS | ESRD | 0.2 | |
| NPHS1 (REFSEQ: NM_004646.3) | |||||||||
| SRNS-85 | c.2156_2163del8, p.L719Pfs*4 c.2464G > A, p.V822M |
At birth | F | Y | NS | MesPGN | Death | 0.0 | |
| SRNS-206 | c.2156_2163del8, p.L719Pfs*4 c.3250dupG, p.V1084Gfs*12 |
At birth | M | N | NS | MesPGN | ESRD | 2.5 | |
| SRNS-207 | c.2442C > G, p.Y814* c.1379G > A, p.R460Q |
At birth | F | N | NS | ND | ESRD | 3.0 | |
| SRNS-208 | c.188A > G, p.Q63R c.1885G > T, p.E629* |
At birth | M | N | NS | FSGS | ESRD | 1.6 | |
| SRNS-209 | c.3027C > G, p.Y1009* c.3478C > T, p.R1160* |
At birth | F | N | NS | ND | ESRD | 3.2 | |
| SRNS-210 | c.2765C > A, p.A922D c.3287 − 11G > A in intron 24 |
At birth | M | N | NS | FSGS | CKD | NA | |
| SRNS-211 | c.2156_2163del8, p.L719Pfs*4 c.3478C > T, p.R1160* |
At birth | M | N | NS | ND | ESRD | 4.7 | |
| SRNS-212 | c.58 + 2T > C in intron 1 a
c.1338delT, p.I466Mfs*16 a |
At birth | F | Y | NS | MesPGN | ESRD | 1.5 | |
| SRNS-213 | c.526 + 1G > A in intron 4 c.1632_1634del3, p.545del |
At birth | M | N | NS | ND | Normal eGFR | NA | |
| SRNS-214 | c.3213dupG, p.L1072Afs*24 a
c.3478C > T, p.R1160* |
At birth | M | N | NS | ND | Death | 0.0 | |
| SRNS-215 | c.139delG, p.A47Pfs*81 (homozygote) | At birth | M | N | NS | MesPGN | ESRD | 1.8 | |
| NUP107 (REFSEQ: NM_020401.3) | |||||||||
| SRNS-71 | c.934delT, p.Y312Tfs a
c.2492A > C, p.D831A |
4.8 | M | N | PU | FSGS | ESRD | 8.7 | |
| SRNS-259 | c.2071C > T, p.Q691* c.2492A > C, p.D831A |
4.3 | M | Y | NS | FSGS | ESRD | 4.2 | |
| SRNS-260 | c.627_663dup37, p.L225Ffs*15 a
c.2492A > C, p.D831A |
3.8 | F | N | PU | FSGS | ESRD | 3.0 | |
| SRNS-261 | c.1079_1083del5, p.E360Gfs*6 c.2492A > C, p.D831A |
3.4 | M | Y | NS | FSGS | ESRD | 2.0 | |
| SRNS-262 | c.1079_1083de5l, p.E360Gfs*6 c.2492A > C, p.D831A |
2.4 | M | N | PU | FSGS | ESRD | 2.7 | |
| SRNS-263 | c.1079_1083del5, p.E360Gfs*6 c.2492A > C, p.D831A |
3.8 | M | N | ESRD | ND | ESRD | 0.0 | |
| SRNS-264 | c.469G > T, p.D157Y c.2492A > C, p.D831A |
10.9 | F | Y | CKD | FSGS | ESRD | 2.1 | |
| SRNS-265 | c.1079_1083del5, p.E360Gfs*6 c.2492A > C, p.D831A |
4.0 | F | N | ESRD | ND | ESRD | 0.0 | |
| SRNS-266 | c.2492A > C, p.D831A c.1735 − 3T > G in intron 20 |
4.1 | M | Y | PU | FSGS | ESRD | 7.4 | |
| COQ8B (REFSEQ: NM_024876.3) | |||||||||
| SRNS-25 | c.759C > A, p.N253K (homozygote) | 1.1 | F | NA | NS | FSGS | ESRD | 1.5 | |
| SRNS-35 | c.737G > A, p.S246N c.532C > T, p.R178W |
6.7 | M | N | PU | FSGS | CKD | NA | |
| SRNS-93 | c.737G > A, p.S246N c.1548C > A, p.Y516* a |
9.9 | F | N | PU | FSGS | Normal eGFR | NA | |
| SRNS-246 | c.449G > A, p.R150Q c.759C > A, p.N253K |
5.1 | M | Y | PU | FSGS | ESRD | 5.1 | |
| SRNS-247 | c.737G > A, p.S246N c.759C > A, p.N253K |
10.8 | F | N | PU | FSGS | ESRD | 2.0 | |
| SRNS-248 | c.737G > A, p.S246N (homozygote) | 9.2 | F | N | PU | FSGS | ESRD | 3.0 | |
| SRNS-249 | c.737G > A, p.S246N c.1468C > T, p.R490C |
6.9 | F | N | PU | FSGS | ESRD | 3.9 | |
| SRNS-250 | c.737G > A, p.S246N (homozygote) | 13.0 | F | N | PU | FSGS | Normal eGFR | NA | |
| MYH9 (REFSEQ: NM_002473.5) | |||||||||
| SRNS-205 | c.3494G > T, p.R1165L | 16.8 | F | Y | PU | ND | ESRD | 17.5 | |
| SRNS-273 | c. 2152C > T, p.R718W | 1.3 | M | N | NS | MesPGN | ESRD | 5.3 | |
| SRNS-274 | c.287C > T, p.S96L | 20.0 | M | N | PU | FSGS | ESRD | 0.7 | |
| SRNS-275 | c.287C > T, p.S96L | 12.1 | F | N | PU | ND | ESRD | 8.3 | |
| SRNS-276 | c.2104C > T, p.R702C | 8.7 | F | NA | PU | MesPGN | ESRD | 7.8 | |
| SRNS-277 | c.287C > T, p.S96L | 12.4 | M | NA | PU | MesPGN | ESRD | 10.5 | |
| INF2 (REFSEQ: NM_022489.3) | |||||||||
| SRNS-63 | c.233T > G, p.L78R a | 11.0 | M | N | PU | FSGS | ESRD | 6.7 | |
| SRNS-69 | c.658G > A, p.E220K | 11.1 | F | N | PU | FSGS | ESRD | 4.0 | |
| SRNS-268 | c.658G > A, p.E220K | 7.4 | M | Y | PU | FSGS | ESRD | 5.8 | |
| SRNS-269 | c.658G > A, p.E220K | 11.7 | M | N | NS | FSGS | ESRD | 5.5 | |
| SRNS-270 | c.230T > C, p.L77P | 9.2 | F | N | NS | FSGS | ESRD | 3.4 | |
| SRNS-271 | c.529C > T, p.R177C | 12.6 | F | Y | PU | FSGS | Normal eGFR | NA | |
| PAX2 (REFSEQ: NM_003987.4) | |||||||||
| SRNS-26 | c.76dupG, p.V26Gfs*28 | 5.3 | M | N | PU | FSGS | ESRD | 10.2 | |
| SRNS-31 | c.563A > G, p.N188S a | 3.4 | M | N | NS | ND | Normal eGFR | NA | |
| SRNS-32 | c.222_225dup4, p.G76Dfs a | 13.4 | M | Y | PU | FSGS | CKD | NA | |
| SRNS-95 | c.74G > A, p.G25E a | 7.2 | F | N | PU | FSGS | ESRD | 7.3 | |
| SRNS-191 | c.419G > A, p.R140Q | 7.8 | M | N | PU | FSGS | Normal eGFR | NA | |
| NPHS2 (REFSEQ: NM_014625.3) | |||||||||
| SRNS-27 | c.503G > A, p.R168H c.467dupT, p.L156Ffs*11 |
1.3 | F | NA | NS | ND | ESRD | 3.6 | |
| SRNS-47 | c.412C > T, p.R138* c.503G > A, p.R168H |
2.1 | M | N | NS | FSGS | ESRD | 4.9 | |
| SRNS-136 | c.502C > T, p.R168C c.851C > T, p.A284V |
6.9 | M | N | PU | FSGS | CKD | NA | |
| SRNS-216 | c.358T > C, p.S120P c.503G > A, p.R168H |
At birth | M | N | NS | FSGS | ESRD | 8.4 | |
| COL4A5 (REFSEQ: NM_000495.4) | |||||||||
| SRNS-49 | c.834 + 1G > A in intron 14 | 10.0 | F | Y | PU | FSGS | CKD | NA | |
| SRNS-81 | c.956G > A, p.G319D | 10.1 | M | Y | PU | FSGS | ESRD | 10.1 | |
| SRNS-87 | c.4946delT, p.L1649Rfs*4 a | 12.9 | M | Y | PU | FSGS | ESRD | 6.7 | |
| SRNS-120 | c.1165 + 1G > A in intron 19 | 3.8 | M | N | NS | FSGS | ESRD | 6.7 | |
| SRNS-134 | c.4082T > A, p.L1361* a | 14.0 | M | Y | PU | FSGS | ESRD | 8.4 | |
| SRNs-190 | c.4532G > A, p.R1511H | 12.8 | M | N | PU | FSGS | CKD | NA | |
| COL4A4 (REFSEQ: NM_000092.4) | |||||||||
| SRNS-53 | c.1111delG, p.D371Tfs a
c.1323_1340del18, p.P444_L449del |
0.8 | F | Y | PU | MesPGN | ESRD | 18.9 | |
| SRNS-148 | c.2630G > A, p.R877Q | 3.6 | M | N | NS | ND | Death | 2.3 | |
| SRNS-152 | c.1046G > A, p.R349Q a | 2.5 | F | N | NS | FSGS | Normal eGFR | NA | |
| SRNS-181 | c.2630G > A, p.R877Q | 14.3 | F | N | PU | FSGS | Normal eGFR | NA | |
| MAFB (REFSEQ: NM_005461.4) | |||||||||
| SRNS-204 | c.194G > T, p.S65I | 9.8 | M | Y | PU | ND | Normal eGFR | NA | |
| SRNS-280 | c.183C > A, p.S61R | 12.5 | F | N | PU | FSGS | CKD | NA | |
| SRNS-281 | c.211C > G, p.P71A | 4.4 | M | N | PU | FSGS | ESRD | 0.6 | |
| SRNS-282 | c.212C > T, p.P71L | 1.2 | M | N | PU | ND | Normal eGFR | NA | |
| LAMB2 (REFSEQ: NM_002292.3) | |||||||||
| SRNS-217 | c.1503_1504delAT, p.C502* c.4267delT, p.C1423Vfs*29 |
0.7 | F | N | NS | FSGS | ESRD | 10.8 | |
| SRNS-218 | c.2283-2286del4, p.S762Rfs*29 c.536C > T, p.S179F |
At birth | F | N | NS | FSGS | CKD | NA | |
| SRNS-219 | c.474delT, p.A159Pfs*33 a
c.1328_1329del2, p.H443Rfs*11 a |
At birth | F | N | NS | ND | ESRD | 0.1 | |
| WDR19 (REFSEQ: NM_025132.3) | |||||||||
| SRNS-289 | c.3533G > A, p.R1178Q c.3703G > A, p.E1235K |
9.6 | M | N | PU | FSGS | ESRD | 1.4 | |
| SRNS-290 | c.3533G > A, p.R1178Q c.3703G > A, p.E1235K |
6.2 | F | Y | PU | MesPGN | ESRD | 3.0 | |
| SRNS-291 | c.1853T > C, p.L618P c.3533G > A, p.R1178Q |
At birth | M | N | CKD | ND | ESRD | 0.3 | |
| SMARCAL1 (REFSEQ: NM_014140.3) | |||||||||
| SRNS-144 | c.1682G > A, p.R561H c.1851 + 1G > T in intron 9 a |
6.0 | M | N | NS | FSGS | ESRD | 3.4 | |
| SRNS-287 | c.1411dupA, p.I471Nfs a
c.1484A > C, p.Q495P a |
5.5 | F | N | NS | FSGS | ESRD | 1.5 | |
| SRNS-288 | c.1484A > C, p.Q495P a
c.1851 + 1G > T in intron 9 a |
3.5 | M | N | PU | FSGS | ESRD | 2.1 | |
| MT-TL1 (REFSEQ: NC_012920) | |||||||||
| SRNS-284 | mtDNA3243A > G | 18.9 | F | Y | PU | DMS | CKD | NA | |
| SRNS-285 | mtDNA3243A > G | 11.8 | F | Y | PU | FSGS | ESRD | 6.0 | |
| SRNS-286 | mtDNA3243A > G | 9.8 | F | N | PU | FSGS | ESRD | 5.3 | |
| FOXP3 (REFSEQ: NM_014009.3) | |||||||||
| SRNS-283 | c.736 − 2A > G in intron 7 a | 3.4 | M | N | NS | MNP | Normal eGFR | NA | |
| ACTN4 (REFSEQ: NM_004924.5) | |||||||||
| SRNS-267 | c.785C > T, p.S262F | 3.5 | M | Y | NS | FSGS | ESRD | 1.2 | |
| LMX1B (REFSEQ: NM_002316.3) | |||||||||
| SRNS-279 | c. 668G > A, p.R223Q | 2.1 | F | N | NS | FSGS | ESRD | 1.86 | |
| ANLN (REFSEQ: NM_018685.4) | |||||||||
| SRNS-65 | c.2305A > T, p.L769* a | 7.7 | M | N | PU | FSGS | Normal eGFR | NA | |
| TRPC6 (REFSEQ: NM_004621.5) | |||||||||
| SRNS-37 | c.523C > G, p.R175G a | 8.5 | F | N | PU | FSGS | ESRD | 2.3 | |
| COL4A3 (REFSEQ: NM_000091.4) | |||||||||
| SRNS-199 | c.4793T > G, p.L1598R | 0.5 | F | N | NS | DMS | ESRD | 0.9 | |
| TP53RK (REFSEQ: NM_033550.3) | |||||||||
| SRNS-221 | c.194A > T, p.K65M (homozygote) | At birth | F | NA | NA | ND | Death | 0.0 | |
| DGKE (REFSEQ: NM_003647.2) | |||||||||
| SRNS-272 | c.501C > G, p.C167W c.610dupA, p.T204Nfs*4 |
0.5 | M | N | PU | FSGS | CKD | NA | |
| LCAT (REFSEQ: NM_000229.1) | |||||||||
| SRNS-278 | c.794_801del8, p.E265Afs*18 c.931delT, p.F311Lfs*99 a |
9.6 | M | Y | PU | FSGS | Normal eGFR | NA | |
| COQ2 (REFSEQ: NM_015697.7) | |||||||||
| SRNS-168 | c.392A > G, p.D131G a
c.518G > A, p.R173H a |
At birth | F | N | NS | FSGS | ESRD | 0.3 | |
| PODXL (REFSEQ: NM_005397.3) | |||||||||
| SRNS-220 | c.3G > T, p.M1? c.926G > A, p.W309* |
At birth | M | Y | NS | ND | ESRD | 0.0 | |
a Novel mutations. b Sex of patients with WT1 mutations and sex reversal, followed by their karyotypes. NA, not available; ND, not done; NS, nephrotic syndrome; PU, proteinuria; CKD, chronic kidney disease; ESRD, end-stage renal disease; eGFR, estimated glomerular filtration rate; FSGS, focal segmental glomerulosclerosis; DMS, diffuse mesangial sclerosis; MesPGN, mesangial proliferative glomerulonephritis; MNP, membranous nephropathy; M, male; F, female; Y, yes; N, no.