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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Whole exome sequencing of patients with steroid-resistant nephrotic syndrome
Clinical Journal of the American Society of Nephrology, Volume 13, No. 1, Year 2018
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Description
Background and objectives 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. Design, setting, participants, & measurements Three hundred thirty-five individuals with steroid-resistant nephrotic syndrome from 300 families were recruited from April of 1998 to June of 2016. Age of onset was restricted to <25 years of age. Exome data were evaluated for 33 known monogenic steroid-resistant nephrotic syndrome genes. Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a mutation in a gene that causes a phenocopy of steroid-resistant nephrotic syndrome. This is consistent with our previously published identification of mutations using a panel approach. We detected a causative mutation in a known steroid-resistant nephrotic syndrome gene in 38% of consanguineous families and in 13% of nonconsanguineous families, and 48% of children with congenital nephrotic syndrome. A total of 68 different mutations were detected in 20 of 33 steroid-resistant nephrotic syndrome genes. Fifteen of these mutations were novel. NPHS1, PLCE1, NPHS2, and SMARCAL1 were the most common genes in which we detected a mutation. In another 28% of families, we detected mutations in one or more candidate genes for steroid-resistant nephrotic syndrome. Conclusions Whole exome sequencing is a sensitive approach toward diagnosis of monogenic causes of steroid-resistant nephrotic syndrome. A molecular genetic diagnosis of steroid-resistant nephrotic syndrome may have important consequences for the management of treatment and kidney transplantation in steroid-resistant nephrotic syndrome. © 2018 by the American Society of Nephrology.
Authors & Co-Authors
Warejko, Jillian K.
Unknown Affiliation
Tan, Weizhen
Unknown Affiliation
Daga, Ankana
Unknown Affiliation
Schapiro, David
Unknown Affiliation
Lawson, Jennifer Ashley
Unknown Affiliation
Shril, Shirlee
Unknown Affiliation
Lovric, Svjetlana
Unknown Affiliation
Ashraf, Shazia
Unknown Affiliation
Rao, Jia
Unknown Affiliation
Hermle, Tobias
Unknown Affiliation
Jobst-Schwan, Tilman
Unknown Affiliation
Widmeier, Eugen
Unknown Affiliation
Majmundar, Amar J.
Unknown Affiliation
Schneider, Ronen
Unknown Affiliation
Gee, Heonyung
Unknown Affiliation
Schmidt, Johanna Magdalena
Unknown Affiliation
Vivante, Asaf
Unknown Affiliation
van der Ven, Amelie Theresa
Unknown Affiliation
Ityel, Hadas
Unknown Affiliation
Chen, Jing
Unknown Affiliation
Sadowski, Carolin E.
Unknown Affiliation
Kohl, Stefan
Unknown Affiliation
Pabst, Werner Lukas
Unknown Affiliation
Nakayama, Makiko
Unknown Affiliation
Somers, Michael J.G.
Unknown Affiliation
Rodig, Nancy M.
Unknown Affiliation
Daouk, Ghaleb H.
Unknown Affiliation
Baum, Michelle A.
Unknown Affiliation
Stein, Deborah R.
Unknown Affiliation
Ferguson, Michael A.H.
Unknown Affiliation
Traum, Avram Z.
Unknown Affiliation
Soliman Elshakhs, Neveen A.
Unknown Affiliation
Kari, Jameela Abdulaziz
Unknown Affiliation
El-Desoky, Sherif M.
Unknown Affiliation
Fathy, Hanan M.
Unknown Affiliation
Zenker, Martin
Unknown Affiliation
Bakkalǒglu, Sevcan Azime
Unknown Affiliation
Müller, Dominik N.
Unknown Affiliation
Özaltın, Fatih
Unknown Affiliation
Hashmi, Seema
Unknown Affiliation
Kopp, Jeffrey B.
Unknown Affiliation
Böckenhauer, Detlef
Unknown Affiliation
Bogdanovíć, Radovan M.
Unknown Affiliation
Stajić, Nataša
Unknown Affiliation
Chernin, Gil
Unknown Affiliation
Ettenger, Robert Bruce
Unknown Affiliation
Fehrenbach, Henry
Unknown Affiliation
Kemper, Markus Josef
Unknown Affiliation
Munarriz, Reyner Loza
Unknown Affiliation
Büscher, Rainer
Unknown Affiliation
Serdaroǧlu, Erkin
Unknown Affiliation
Tasić, Velibor B.
Unknown Affiliation
Mane, Shrikant M.
Unknown Affiliation
Lifton, Richard P.
Unknown Affiliation
Braun, Daniela Anne
Unknown Affiliation
Hildebrandt, Friedhelm
United States, Boston
Boston Children's Hospital
Statistics
Citations: 153
Authors: 56
Affiliations: 1
Identifiers
Doi:
10.2215/CJN.04120417
ISSN:
15559041
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Study Design
Cohort Study