Correction: Park et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9, 2013
by
, , , , , , and
Eujin Park
1,2
,
Chung Lee
3,4,
Nayoung K. D. Kim
3,4,
Yo Han Ahn
1,
Young Seo Park
5,
Joo Hoon Lee
5,
Seong Heon Kim
6,
Min Hyun Cho
7,
Heeyeon Cho
8,
Kee Hwan Yoo
9,
Jae Il Shin
10,11,
Hee Gyung Kang
1,
Il-Soo Ha
1,
Woong-Yang Park
3,4,12 and
Hae Il Cheong
1,* 1
Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea
2
Department of Pediatrics, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07441, Korea
3
Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea
4
GENINUS Inc., Seoul 05836, Korea
5
Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul 05505, Korea
6
Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan 50612, Korea
7
Department of Pediatrics, Kyungpook National University School of Medicine, Daegu 41944, Korea
8
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea
9
Department of Pediatrics, Korea University Guro Hospital, Seoul 02841, Korea
10
Department of Pediatrics, Yonsei University College of Medicine, Seoul 03722, Korea
11
Division of Pediatric Nephrology, Severance Children’s Hospital, Seoul 03722, Korea
12
Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon 16419, Korea
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2022, 11(11), 3016; https://doi.org/10.3390/jcm11113016
Submission received: 21 April 2022
/
Accepted: 19 May 2022
/
Published: 27 May 2022
In the original article [1], there were errors in Tables 2, 3 and S2 as published. The patient SRNS-168 was the only one having COQ2 mutations in the study. However, it was incorrectly described as a mutation in the COQ6 gene. The corrected Table 2, Table 3 and Table S2 appear below. Also, the sentences in Abstract and Results Section 3.2. paragraph 2 have been corrected. “WT1 was the most common causative gene (23.6%), followed by COQ6 (8.7%), NPHS1 (8.7%), NUP107 (7.1%), and COQ8B (6.3%).” “WT1 was the most common causative gene (23.6%, 30 patients), followed by COQ6 (8.7%, 11 patients), NPHS1 (8.7%, 11 patients), NUP107 (7.1%, 9 patients), COQ8B (6.3%, 8 patients), MYH9 (4.7%, 6 patients), and INF2 (4.7%, 6 patients) (Table 2).”
The authors apologize for any inconvenience caused and state that the scientific conclusions are unaffected. The original article has been updated.
Reference
- Park, E.; Lee, C.; Kim, N.K.D.; Ahn, Y.H.; Park, Y.S.; Lee, J.H.; Kim, S.H.; Cho, M.H.; Cho, H.; Yoo, K.H.; et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9, 2013. [Google Scholar] [CrossRef] [PubMed]
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.
Table 3.
Genetic studies in large cohorts of pediatric patients with steroid-resistant nephrotic syndrome.
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.
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.
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Park, E.; Lee, C.; Kim, N.K.D.; Ahn, Y.H.; Park, Y.S.; Lee, J.H.; Kim, S.H.; Cho, M.H.; Cho, H.; Yoo, K.H.; et al. Correction: Park et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9, 2013. J. Clin. Med. 2022, 11, 3016. https://doi.org/10.3390/jcm11113016
AMA Style
Park E, Lee C, Kim NKD, Ahn YH, Park YS, Lee JH, Kim SH, Cho MH, Cho H, Yoo KH, et al. Correction: Park et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9, 2013. Journal of Clinical Medicine. 2022; 11(11):3016. https://doi.org/10.3390/jcm11113016
Chicago/Turabian StylePark, Eujin, Chung Lee, Nayoung K. D. Kim, Yo Han Ahn, Young Seo Park, Joo Hoon Lee, Seong Heon Kim, Min Hyun Cho, Heeyeon Cho, Kee Hwan Yoo, and et al. 2022. "Correction: Park et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9, 2013" Journal of Clinical Medicine 11, no. 11: 3016. https://doi.org/10.3390/jcm11113016
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