Corrigendum: Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis

Journal of Human Genetics, Aug 2016

Daisuke Ogino, Taeko Hashimoto, Motoshi Hattori, Noriko Sugawara, Yuko Akioka, Gen Tamiya, Satoshi Makino, Kentaro Toyota, Tetsuo Mitsui, Kiyoshi Hayasaka

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Corrigendum: Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis

Journal of Human Genetics Corrigendum: Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis Daisuke Ogino Taeko Hashimoto Motoshi Hattori Noriko Sugawara Yuko Akioka Gen Tamiya Satoshi Makino Kentaro Toyota Tetsuo Mitsui Kiyoshi Hayasaka Since the publication of the above article, the authors have noticed an error in the description of mutation. The LAMB2 mutation in Case 12 described as c.1405+1g4a (splicing mutation) in the main text and Tables 1 and 2 should have been c.1406g4a (p.R469Q). Case 12 was a compound heterozygote of LAMB2 p.[ R469Q];[G699R] mutation. This correction does not alter the results, but the sentence 'The homozygous c. [1405+1g4a] mutation was reported in the patient showing Pierson syndrome.' in the Discussion should have been deleted. The authors would like to apologize for this mistake. Mutation PTPRO NPHS1 c.1013c4t c.656c4t p.S338F p.A219V NPHS1 c.656c4t p.A219V Heterozygote NPHS2 NPHS2 LAMB2 CD2AP CD2AP TRPC6 WT1 WT1 INF-2 c.412c4t c.503g4a c.860a4g c.1406g4a c.2095g4c c.221g4t c.221g4t c.2624a4t c.421a4c c.745c4a c.421a4c c.745c4a c.550g4a p.R138X p.R168H p.Q287R p.R469Qa p.G699R p.R74Ma p.R74Ma p.E875Va p.K141Qa p.P249Ta p.K141Qa p.P249Ta p.E184K Status Heterozygote Heterozygote Heterozygote Heterozygote Heterozygote Heterozygote Heterozygote Heterozygote Heterozygote Heterozygote Heterozygote Heterozygote Heterozygote PolyPhen-2 (HumDiv) score GERP score Pathology Prognosis Gene Causative or predisposing mutation Clinical features 12 M 1y9m 10 M 5y4m 7y6m CD2AP c.221g4t NA Complete remission ? CD2AP c.221g4t 16y6m WT1 42y WT1 16y11m INF-2 12y5m 23y11m TRPC6 c.2624a4t Abbreviations: ESRF, end-stage renal failure; FSGS, focal glomerular sclerosis; m, months; NA, not analyzed; y, years. aNovel mutations. p.[R138X]; [R168H] p.[R469Qa]; [G699R] p.R74Ma p.R74Ma p.E875Va p.[K141Qa; P249Ta] p.[K141Qa; P249Ta] p.E184K No relapse after renal transplantation at age 11y4m Sister with FSGS died of renal failure at age 5 No relapse after renal transplantation at age 7y2m No ocular symptoms No affected family members FSGS relapsed after renal transplantation at age 8y1m No affected family members No affected family members hemodialysis at age 23 Father had proteinuria; grandfather died of renal disease at age 30. Daughter of case 20; bicornuate uterus Grandfather died of renal disease at age 42 Mother of case 19; bicornuate uterus Father died of renal disease at age 42 No relapse after renal transplantation at age 20 No affected family members Causative or predisposing mutation Clinical features


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Daisuke Ogino, Taeko Hashimoto, Motoshi Hattori, Noriko Sugawara, Yuko Akioka, Gen Tamiya, Satoshi Makino, Kentaro Toyota, Tetsuo Mitsui, Kiyoshi Hayasaka. Corrigendum: Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis, Journal of Human Genetics, 2016, 771-772, DOI: 10.1038/jhg.2016.31