Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko, Jillian K; Tan, Weizhen; Daga, Ankana; Schapiro, David; Lawson, Jennifer A.; Shril, Shirlee; Lovric, Svjetlana; Ashraf, Shazia; Rao, Jia; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar J.; Schneider, Ronen; Gee, Heon Yung; Schmidt, J Magdalena; Vivante, Asaf; van der Ven, Amelie T.; Ityel, Hadas; Chen, Jing; Sadowski, Carolin E.; Kohl, Stefan; Pabst, Werner L.; Nakayama, Makiko; Somers, Michael J.G.; Rodig, Nancy M; Daouk, Ghaleb H; Baum, Michelle; Stein, Deborah R; Ferguson, Michael A. D.; Traum, Avram Z; Soliman, Neveen A.; Kari, Jameela A; El Desoky, Sherif; Fathy, Hanan; Zenker, Martin; Bakkaloglu, Sevcan A; Müller, Dominik; Noyan, Aytul; Ozaltin, Fatih; Cadnapaphornchai, Melissa A; Hashmi, Seema; Hopcian, Jeffrey; Kopp, Jeffrey B; Benador, Nadine; Bockenhauer, Detlef; Bogdanović, Radovan; Stajić, Nataša; Chernin, Gil; Ettenger, Robert B.; Fehrenbach, Henry; Kemper, Markus Josef; Munarriz, Reyner Loza; Podracka, Ludmila; Büscher, Rainer; Serdaroğlu, Erkin; Tasic, Velibor; Mane, Shrikant; Lifton, Richard P; Braun, Daniela A.; Hildebrandt, Friedhelm

doi:10.2215/CJN.04120417

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Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Author(s): Jillian K Warejko ¹ , Weizhen Tan ¹ , Ankana Daga ¹ , David Schapiro ¹ , Jennifer A Lawson ¹ , Shirlee Shril ¹ , Svjetlana Lovric ¹ , Shazia Ashraf ¹ , Jia Rao ¹ , Tobias Hermle ¹ , Tilman Jobst-Schwan ¹ , Eugen Widmeier ¹ , Amar J Majmundar ¹ , Ronen Schneider ¹ , Heon Yung Gee ¹ , J Magdalena Schmidt ¹ , Asaf Vivante ¹ , Amelie T van der Ven ¹ , Hadas Ityel ¹ , Jing Chen ¹ , Carolin E Sadowski ¹ , Stefan Kohl ¹ , Werner L Pabst ¹ , Makiko Nakayama ¹ , Michael J G Somers ¹ , Nancy M Rodig ¹ , Ghaleb Daouk ¹ , Michelle Baum ¹ , Deborah R Stein ¹ , Michael A Ferguson ¹ , Avram Z Traum ¹ , Neveen A Soliman ¹ , Jameela A Kari ¹ , Sherif El Desoky ¹ , Hanan Fathy ¹ , Martin Zenker ¹ , Sevcan A Bakkaloglu ¹ , Dominik Müller ¹ , Aytul Noyan ¹ , Fatih Ozaltin ¹ , Melissa A Cadnapaphornchai ¹ , Seema Hashmi ¹ , Jeffrey Hopcian ¹ , Jeffrey B Kopp ¹ , Nadine Benador ¹ , Detlef Bockenhauer ¹ , Radovan Bogdanovic ¹ , Nataša Stajić ¹ , Gil Chernin ¹ , Robert Ettenger ¹ , Henry Fehrenbach ¹ , Markus Kemper ¹ , Reyner Loza Munarriz ¹ , Ludmila Podracka ¹ , Rainer Büscher ¹ , Erkin Serdaroglu ¹ , Velibor Tasic ¹ , Shrikant Mane ¹ , Richard P Lifton ¹ , Daniela A Braun ¹ , Friedhelm Hildebrandt ²

Publication date (Electronic): Jan 06 2018

Journal: Clinical journal of the American Society of Nephrology : CJASN

Publisher: American Society of Nephrology (ASN)

Keywords: Child, Exome, Humans, Kidney Failure, Chronic, Mutation, Nephrosis, congenital, Phenotype, Renal Insufficiency, Chronic, genetic renal disease, kidney transplantation, molecular genetics, nephrotic syndrome, pediatric

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Abstract

Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families.

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Journal ID (iso-abbrev): Clin J Am Soc Nephrol

Title: Clinical journal of the American Society of Nephrology : CJASN

Publisher: American Society of Nephrology (ASN)

ISSN (Electronic): 1555-905X

ISSN (Print): 1555-9041

Publication date (Electronic): Jan 06 2018

Volume: 13

Issue: 1

Affiliations

[1 ] Due to the number of contributing authors, the affiliations are provided in the Supplemental Material.

[2 ] Due to the number of contributing authors, the affiliations are provided in the Supplemental Material. friedhelm.hildebrandt@childrens.harvard.edu.

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Publisher Item ID: CJN.04120417

DOI: 10.2215/CJN.04120417

PMC ID: 5753307

PubMed ID: 29127259

SO-VID: 854c8e8c-1a0f-4101-8171-80cfd70c3c13

History

Keywords: Exome,Humans,Kidney Failure, Chronic,Mutation,Nephrosis, congenital,Phenotype,Renal Insufficiency, Chronic,genetic renal disease,kidney transplantation,molecular genetics,nephrotic syndrome,pediatric,Child

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Keywords: Exome, Humans, Kidney Failure, Chronic, Mutation, Nephrosis, congenital, Phenotype, Renal Insufficiency, Chronic, genetic renal disease, kidney transplantation, molecular genetics, nephrotic syndrome, pediatric, Child

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

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