Literature DB >> 35683636

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.

Eujin Park1,2, Chung Lee3,4, Nayoung K D Kim3,4, Yo Han Ahn1, Young Seo Park5, Joo Hoon Lee5, Seong Heon Kim6, Min Hyun Cho7, Heeyeon Cho8, Kee Hwan Yoo9, Jae Il Shin10,11, Hee Gyung Kang1, Il-Soo Ha1, Woong-Yang Park3,4,12, Hae Il Cheong1.   

Abstract

In the original article [...].

Entities:  

Year:  2022        PMID: 35683636      PMCID: PMC9181158          DOI: 10.3390/jcm11113016

Source DB:  PubMed          Journal:  J Clin Med        ISSN: 2077-0383            Impact factor:   4.964


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).”
Table 2

Mutation screening results.

GeneMode of InheritanceNo. of Patients (%)% of Total Patients (n = 291)
SRNS/FSGS gene
WT1 AD30 (23.6%)10.3%
COQ6 AR11 (8.7%)3.8%
NPHS1 AR11 (8.7%)3.8%
NUP107 AR9 (7.1%)3.1%
COQ8B AR8 (6.3%)2.7%
MYH9 AD6 (4.7%)2.1%
INF2 AD6 (4.7%)2.1%
PAX2 AD5 (3.9%)1.7%
NPHS2 AR4 (3.1%)1.4%
MAFB AD4 (3.1%)1.4%
LAMB2 AR3 (2.4%)1.0%
SMARCAL1 AR3 (2.4%)1.0%
MT-TL1 Mitochondrial3 (2.4%)1.0%
ACTN4 AD1 (0.8%)0.3%
LMX1B AD1 (0.8%)0.3%
ANLN AD1 (0.8%)0.3%
TRPC6 AD1 (0.8%)0.3%
TP53RK AR1 (0.8%)0.3%
PODXL AR1 (0.8%)0.3%
DGKE AR1 (0.8%)0.3%
FOXP3 X-linked1 (0.8%)0.3%
LCAT COQ2 AR AR1 (0.8%) 1 (0.8%)0.3% 0.3%
Subtotal 113 (89.0%)38.8%
Phenocopying gene
COL4A5 X-linked6 (4.7%)2.1%
COL4A4 AD/AR4 (3.1%)1.4%
WDR19 AR3 (2.4%)1.0%
COL4A3 AD1 (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.

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
CountryInternationalInternationalUnited KingdomChinaInternationalJapanKorea
ModalityGP (31 genes)GP (27 genes)WES (53 genes)GP (28 genes)WESGP (60 genes)Sanger/GP (57 genes) c
Detection rate a277/1174 (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 bNPHS2 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.

GenePatient IDMutationsAge at Onset (Years)Sex bFamily HistoryMode of OnsetKidney BiopsyRenal OutcomeTime to ESRD (Years)
WT1 (REFSEQ: NM_024426.5)
SRNS-20c.1400G > A, p.R467QAt birthMNNSNDESRD0.1
SRNS-42c.1136delT, p.V379Dfs a6.5MNPUFSGSESRD2.7
SRNS-126c.1231C > T, p.H411Y a1.5FNNSFSGSESRD7.3
SRNS-151c.1315C > T, p.R439CAt birthMNNSNDESRD0.0
SRNS-156c.760C > A, p.P254T a3.3MNNSFSGSESRD6.1
SRNS-186c.1363C > T, p.P455S8.0MYNSFSGSNormal eGFRNA
SRNS-222c.1316G > A, p.R439HAt birthMNNSFSGSESRD0.4
SRNS-223c.1316G > A, p.R439HAt birthFNNSDMSESRD0.0
SRNS-224c.1316G > A, p.R439HAt birthFNNSFSGSDeathNA
SRNS-225c.1316G > A, p.R439HAt birthFNNSNDESRD0.0
SRNS-226c.1316G > C, p.R439PAt birthMNAPUNDESRD1.8
SRNS-227c.1315C > T, p.R439CAt birthFNNSNDESRD0.0
SRNS-228c.1324C > A, p.Q442K1.0FNESRDNDESRD0.0
SRNS-229c.1372T > A, p.C458SAt birthMNNSDMS ESRD1.1
SRNS-230c.1399C > T, p.R467WAt birthMNPUDMSESRD1.8
SRNS-231c.1405G > T, p.D469YAt birthFNANSDMSESRD0.0
SRNS-232c.785 − 1G > C in intron 2 aNAMNANANDNANA
SRNS-233c.1447 + 4C > T in intron 96.6FNNSFSGSCKDNA
SRNS-234c.1447 + 4C > T in intron 92.6FNNSFSGSNormal eGFR NA
SRNS-235c.1447 + 4C > T in intron 93.5MNESRDNDESRD0.0
SRNS-236c.1447 + 4C > T in intron 96.8MNNSMesPGNESRD15.4
SRNS-237c.1447 + 4C > T in intron 9At birthFNCKDNDESRD0.7
SRNS-238c.1447 + 5G > A in intron 9At birthMNPUFSGSESRD19.7
SRNS-239c.1447 + 5G > A in intron 95.0FNNSFSGSESRD4.2
SRNS-240c.1447 + 5G > A in intron 96.8FNPUFSGSESRD12.9
SRNS-241c.1447 + 5G > A in intron 911.4MNCKDFSGSESRD0.3
SRNS-242c.1447 + 5G > A in intron 912.3MNPUFSGSNormal eGFR NA
SRNS-243c.1419_1430del12, p.H474_T477del aAt birthMNESRDNDESRD0.0
SRNS-244c.1381T > C, p.C461R2.2FNESRDMesPGNESRD0.0
SRNS-245c.1297T > C, p.C433RAt birthFNESRDNDESRD0.0
COQ6 (REFSEQ: NM_182476.2)
SRNS-61c.686A > C, p.Q229P c.782C > T, p.P261L1.1MNPUFSGSNormal eGFR NA
SRNS-103c.124G > T, p.G42C a c. 782C > T, p.P261LAt birthFNNSFSGSESRD0.4
SRNS-203c.484C > T, p.R162* c.782C > T, p.P261L9.1MNPUFSGSESRD0.8
SRNS-251c.189_191del3, p.K64del c.782C > T, p.P261L3.9MNNSFSGSESRD2.2
SRNS-252c.189_191del3, p.K64del c.686A > C, p.Q229P2.0FNNSFSGSESRD1.1
SRNS-253c.189_191del3, p.K64del c.782C > T, p.P261L3.9FNNSFSGSESRD0.1
SRNS-254c.189_191del3, p.K64del c.782C > T, p.P261L2.7FNNSFSGSESRD1.9
SRNS-255c.189_191del3, p.K64del c.782C > T, p.P261L1.2FYNSFSGSESRD0.1
SRNS-256c.189_191del3, p.K64del c.782C > T, p.P261L3.1MNNSFSGSESRD0.4
SRNS-257c.686A > C, p.Q229P c.782C > T, p.P261LAt birthMNNSFSGSESRD1.7
SRNS-258c.189_191del3, p.K64del c.782C > T, p.P261L1.1MNNSFSGSESRD0.2
NPHS1 (REFSEQ: NM_004646.3)
SRNS-85c.2156_2163del8, p.L719Pfs*4 c.2464G > A, p.V822MAt birthFYNSMesPGNDeath0.0
SRNS-206c.2156_2163del8, p.L719Pfs*4 c.3250dupG, p.V1084Gfs*12At birthMNNSMesPGNESRD2.5
SRNS-207c.2442C > G, p.Y814* c.1379G > A, p.R460QAt birthFNNSNDESRD3.0
SRNS-208c.188A > G, p.Q63R c.1885G > T, p.E629*At birthMNNSFSGSESRD1.6
SRNS-209c.3027C > G, p.Y1009* c.3478C > T, p.R1160*At birthFNNSNDESRD3.2
SRNS-210c.2765C > A, p.A922D c.3287 − 11G > A in intron 24At birthMNNSFSGSCKDNA
SRNS-211c.2156_2163del8, p.L719Pfs*4 c.3478C > T, p.R1160*At birthMNNSNDESRD4.7
SRNS-212c.58 + 2T > C in intron 1 a c.1338delT, p.I466Mfs*16 aAt birthFYNSMesPGNESRD1.5
SRNS-213c.526 + 1G > A in intron 4 c.1632_1634del3, p.545delAt birthMNNSNDNormal eGFR NA
SRNS-214c.3213dupG, p.L1072Afs*24 a c.3478C > T, p.R1160*At birthMNNSNDDeath0.0
SRNS-215c.139delG, p.A47Pfs*81 (homozygote)At birthMNNSMesPGNESRD1.8
NUP107 (REFSEQ: NM_020401.3)
SRNS-71c.934delT, p.Y312Tfs a c.2492A > C, p.D831A4.8MNPUFSGSESRD8.7
SRNS-259c.2071C > T, p.Q691* c.2492A > C, p.D831A4.3MYNSFSGSESRD4.2
SRNS-260c.627_663dup37, p.L225Ffs*15 a c.2492A > C, p.D831A3.8FNPUFSGSESRD3.0
SRNS-261c.1079_1083del5, p.E360Gfs*6 c.2492A > C, p.D831A3.4MYNSFSGSESRD2.0
SRNS-262c.1079_1083de5l, p.E360Gfs*6 c.2492A > C, p.D831A2.4MNPUFSGSESRD2.7
SRNS-263c.1079_1083del5, p.E360Gfs*6 c.2492A > C, p.D831A3.8MNESRDNDESRD0.0
SRNS-264c.469G > T, p.D157Y c.2492A > C, p.D831A10.9FYCKDFSGSESRD2.1
SRNS-265c.1079_1083del5, p.E360Gfs*6 c.2492A > C, p.D831A4.0FNESRDNDESRD0.0
SRNS-266c.2492A > C, p.D831A c.1735 − 3T > G in intron 204.1MYPUFSGSESRD7.4
COQ8B (REFSEQ: NM_024876.3)
SRNS-25c.759C > A, p.N253K (homozygote)1.1FNANSFSGSESRD1.5
SRNS-35c.737G > A, p.S246N c.532C > T, p.R178W6.7MNPUFSGSCKDNA
SRNS-93c.737G > A, p.S246N c.1548C > A, p.Y516* a9.9FNPUFSGSNormal eGFR NA
SRNS-246c.449G > A, p.R150Q c.759C > A, p.N253K5.1MYPUFSGSESRD5.1
SRNS-247c.737G > A, p.S246N c.759C > A, p.N253K10.8FNPUFSGSESRD2.0
SRNS-248c.737G > A, p.S246N (homozygote)9.2FNPUFSGSESRD3.0
SRNS-249c.737G > A, p.S246N c.1468C > T, p.R490C6.9FNPUFSGSESRD3.9
SRNS-250c.737G > A, p.S246N (homozygote)13.0FNPUFSGSNormal eGFR NA
MYH9 (REFSEQ: NM_002473.5)
SRNS-205c.3494G > T, p.R1165L16.8FYPUNDESRD17.5
SRNS-273c. 2152C > T, p.R718W1.3MNNSMesPGNESRD5.3
SRNS-274c.287C > T, p.S96L20.0MNPUFSGSESRD0.7
SRNS-275c.287C > T, p.S96L12.1FNPUNDESRD8.3
SRNS-276c.2104C > T, p.R702C8.7FNAPUMesPGNESRD7.8
SRNS-277c.287C > T, p.S96L12.4MNAPUMesPGNESRD10.5
INF2 (REFSEQ: NM_022489.3)
SRNS-63c.233T > G, p.L78R a11.0MNPUFSGSESRD6.7
SRNS-69c.658G > A, p.E220K11.1FNPUFSGSESRD4.0
SRNS-268c.658G > A, p.E220K7.4MYPUFSGSESRD5.8
SRNS-269c.658G > A, p.E220K11.7MNNSFSGSESRD5.5
SRNS-270c.230T > C, p.L77P9.2FNNSFSGSESRD3.4
SRNS-271c.529C > T, p.R177C12.6FYPUFSGSNormal eGFR NA
PAX2 (REFSEQ: NM_003987.4)
SRNS-26c.76dupG, p.V26Gfs*285.3MNPUFSGSESRD10.2
SRNS-31c.563A > G, p.N188S a3.4MNNSNDNormal eGFR NA
SRNS-32c.222_225dup4, p.G76Dfs a13.4MYPUFSGSCKDNA
SRNS-95c.74G > A, p.G25E a7.2FNPUFSGSESRD7.3
SRNS-191c.419G > A, p.R140Q7.8MNPUFSGSNormal eGFR NA
NPHS2 (REFSEQ: NM_014625.3)
SRNS-27c.503G > A, p.R168H c.467dupT, p.L156Ffs*111.3FNANSNDESRD3.6
SRNS-47c.412C > T, p.R138* c.503G > A, p.R168H2.1MNNSFSGSESRD4.9
SRNS-136c.502C > T, p.R168C c.851C > T, p.A284V6.9MNPUFSGSCKDNA
SRNS-216c.358T > C, p.S120P c.503G > A, p.R168HAt birthMNNSFSGSESRD8.4
COL4A5 (REFSEQ: NM_000495.4)
SRNS-49c.834 + 1G > A in intron 1410.0FYPUFSGSCKDNA
SRNS-81c.956G > A, p.G319D10.1MYPUFSGSESRD10.1
SRNS-87c.4946delT, p.L1649Rfs*4 a12.9MYPUFSGSESRD6.7
SRNS-120c.1165 + 1G > A in intron 193.8MNNSFSGSESRD6.7
SRNS-134c.4082T > A, p.L1361* a14.0MYPUFSGSESRD8.4
SRNs-190c.4532G > A, p.R1511H12.8MNPUFSGSCKDNA
COL4A4 (REFSEQ: NM_000092.4)
SRNS-53c.1111delG, p.D371Tfs a c.1323_1340del18, p.P444_L449del0.8FYPUMesPGNESRD18.9
SRNS-148c.2630G > A, p.R877Q3.6MNNSNDDeath2.3
SRNS-152c.1046G > A, p.R349Q a2.5FNNSFSGSNormal eGFR NA
SRNS-181c.2630G > A, p.R877Q14.3FNPUFSGSNormal eGFR NA
MAFB (REFSEQ: NM_005461.4)
SRNS-204c.194G > T, p.S65I9.8MYPUNDNormal eGFR NA
SRNS-280c.183C > A, p.S61R12.5FNPUFSGSCKDNA
SRNS-281c.211C > G, p.P71A4.4MNPUFSGSESRD0.6
SRNS-282c.212C > T, p.P71L1.2MNPUNDNormal eGFR NA
LAMB2 (REFSEQ: NM_002292.3)
SRNS-217c.1503_1504delAT, p.C502* c.4267delT, p.C1423Vfs*290.7FNNSFSGSESRD10.8
SRNS-218c.2283-2286del4, p.S762Rfs*29 c.536C > T, p.S179FAt birthFNNSFSGSCKDNA
SRNS-219c.474delT, p.A159Pfs*33 a c.1328_1329del2, p.H443Rfs*11 aAt birthFNNSNDESRD0.1
WDR19 (REFSEQ: NM_025132.3)
SRNS-289c.3533G > A, p.R1178Q c.3703G > A, p.E1235K9.6MNPUFSGSESRD1.4
SRNS-290c.3533G > A, p.R1178Q c.3703G > A, p.E1235K6.2FYPUMesPGNESRD3.0
SRNS-291c.1853T > C, p.L618P c.3533G > A, p.R1178QAt birthMNCKDNDESRD0.3
SMARCAL1 (REFSEQ: NM_014140.3)
SRNS-144c.1682G > A, p.R561H c.1851 + 1G > T in intron 9 a6.0MNNSFSGSESRD3.4
SRNS-287c.1411dupA, p.I471Nfs a c.1484A > C, p.Q495P a5.5FNNSFSGSESRD1.5
SRNS-288c.1484A > C, p.Q495P a c.1851 + 1G > T in intron 9 a3.5MNPUFSGSESRD2.1
MT-TL1 (REFSEQ: NC_012920)
SRNS-284mtDNA3243A > G18.9FYPUDMSCKDNA
SRNS-285mtDNA3243A > G11.8FYPUFSGSESRD6.0
SRNS-286mtDNA3243A > G9.8FNPUFSGSESRD5.3
FOXP3 (REFSEQ: NM_014009.3)
SRNS-283c.736 − 2A > G in intron 7 a3.4MNNSMNPNormal eGFR NA
ACTN4 (REFSEQ: NM_004924.5)
SRNS-267c.785C > T, p.S262F3.5MYNSFSGSESRD1.2
LMX1B (REFSEQ: NM_002316.3)
SRNS-279c. 668G > A, p.R223Q2.1FNNSFSGSESRD1.86
ANLN (REFSEQ: NM_018685.4)
SRNS-65c.2305A > T, p.L769* a7.7MNPUFSGSNormal eGFR NA
TRPC6 (REFSEQ: NM_004621.5)
SRNS-37c.523C > G, p.R175G a8.5FNPUFSGSESRD2.3
COL4A3 (REFSEQ: NM_000091.4)
SRNS-199c.4793T > G, p.L1598R0.5FNNSDMSESRD0.9
TP53RK (REFSEQ: NM_033550.3)
SRNS-221c.194A > T, p.K65M (homozygote)At birthFNANANDDeath0.0
DGKE (REFSEQ: NM_003647.2)
SRNS-272c.501C > G, p.C167W c.610dupA, p.T204Nfs*40.5MNPUFSGSCKDNA
LCAT (REFSEQ: NM_000229.1)
SRNS-278c.794_801del8, p.E265Afs*18 c.931delT, p.F311Lfs*99 a9.6MYPUFSGSNormal eGFR NA
COQ2 (REFSEQ: NM_015697.7)
SRNS-168c.392A > G, p.D131G a c.518G > A, p.R173H aAt birthFNNSFSGSESRD0.3
PODXL (REFSEQ: NM_005397.3)
SRNS-220c.3G > T, p.M1? c.926G > A, p.W309*At birthMYNSNDESRD0.0

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.

The authors apologize for any inconvenience caused and state that the scientific conclusions are unaffected. The original article has been updated.
  1 in total

1.  Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.

Authors:  Eujin Park; 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; Jae Il Shin; Hee Gyung Kang; Il-Soo Ha; Woong-Yang Park; Hae Il Cheong
Journal:  J Clin Med       Date:  2020-06-26       Impact factor: 4.241

  1 in total

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