Cited 162 times in
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
DC Field | Value | Language |
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dc.contributor.author | 지헌영 | - |
dc.date.accessioned | 2018-08-28T16:55:00Z | - |
dc.date.available | 2018-08-28T16:55:00Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 1555-9041 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/162064 | - |
dc.description.abstract | 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. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | American Society of Nephrology | - |
dc.relation.isPartOf | CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Pharmacology | - |
dc.contributor.googleauthor | Jillian K Warejko | - |
dc.contributor.googleauthor | Weizhen Tan | - |
dc.contributor.googleauthor | Ankana Daga | - |
dc.contributor.googleauthor | David Schapiro | - |
dc.contributor.googleauthor | Jennifer A Lawson | - |
dc.contributor.googleauthor | Shirlee Shril | - |
dc.contributor.googleauthor | Svjetlana Lovric | - |
dc.contributor.googleauthor | Shazia Ashraf | - |
dc.contributor.googleauthor | Jia Rao | - |
dc.contributor.googleauthor | Tobias Hermle | - |
dc.contributor.googleauthor | Tilman Jobst-Schwan | - |
dc.contributor.googleauthor | Eugen Widmeier | - |
dc.contributor.googleauthor | Amar J Majmundar | - |
dc.contributor.googleauthor | Ronen Schneider | - |
dc.contributor.googleauthor | Heon Yung Gee | - |
dc.contributor.googleauthor | J Magdalena Schmidt | - |
dc.contributor.googleauthor | Asaf Vivante | - |
dc.contributor.googleauthor | Amelie T van der Ven | - |
dc.contributor.googleauthor | Hadas Ityel | - |
dc.contributor.googleauthor | Jing Chen | - |
dc.contributor.googleauthor | Carolin E Sadowski | - |
dc.contributor.googleauthor | Stefan Kohl | - |
dc.contributor.googleauthor | Werner L Pabst | - |
dc.contributor.googleauthor | Makiko Nakayama | - |
dc.contributor.googleauthor | Michael J G Somers | - |
dc.contributor.googleauthor | Nancy M Rodig | - |
dc.contributor.googleauthor | Ghaleb Daouk | - |
dc.contributor.googleauthor | Michelle Baum | - |
dc.contributor.googleauthor | Deborah R Stein | - |
dc.contributor.googleauthor | Michael A Ferguson | - |
dc.contributor.googleauthor | Avram Z Traum | - |
dc.contributor.googleauthor | Neveen A Soliman | - |
dc.contributor.googleauthor | Jameela A Kari | - |
dc.contributor.googleauthor | Sherif El Desoky | - |
dc.contributor.googleauthor | Hanan Fathy | - |
dc.contributor.googleauthor | Martin Zenker | - |
dc.contributor.googleauthor | Sevcan A Bakkaloglu | - |
dc.contributor.googleauthor | Dominik Muller | - |
dc.contributor.googleauthor | Aytul Noyan | - |
dc.contributor.googleauthor | Fatih Ozaltin | - |
dc.contributor.googleauthor | Melissa A Cadnapaphornchai | - |
dc.contributor.googleauthor | Seema Hashmi | - |
dc.contributor.googleauthor | Jeffrey Hopcian | - |
dc.contributor.googleauthor | Jeffrey B Kopp | - |
dc.contributor.googleauthor | Nadine Benador | - |
dc.contributor.googleauthor | Detlef Bockenhauer | - |
dc.contributor.googleauthor | Radovan Bogdanovic | - |
dc.contributor.googleauthor | Natasa Stajic | - |
dc.contributor.googleauthor | Gil Chernin | - |
dc.contributor.googleauthor | Robert Ettenger | - |
dc.contributor.googleauthor | Henry Fehrenbach | - |
dc.contributor.googleauthor | Markus Kemper | - |
dc.contributor.googleauthor | Reyner Loza Munarriz | - |
dc.contributor.googleauthor | Ludmila Podracka | - |
dc.contributor.googleauthor | Rainer Buscher | - |
dc.contributor.googleauthor | Erkin Serdaroglu | - |
dc.contributor.googleauthor | Velibor Tasic | - |
dc.contributor.googleauthor | Shrikant Mane | - |
dc.contributor.googleauthor | Richard P Lifton | - |
dc.contributor.googleauthor | Daniela A Braun | - |
dc.contributor.googleauthor | Friedhelm Hildebrandt | - |
dc.identifier.doi | 10.2215/cjn.04120417 | - |
dc.contributor.localId | A03971 | - |
dc.relation.journalcode | J00584 | - |
dc.identifier.eissn | 1555-905X | - |
dc.identifier.pmid | 29127259 | - |
dc.identifier.url | http://cjasn.asnjournals.org/content/13/1/53 | - |
dc.subject.keyword | Child | - |
dc.subject.keyword | Exome | - |
dc.subject.keyword | Humans | - |
dc.subject.keyword | Chronic Kidney Failure | - |
dc.subject.keyword | Mutation | - |
dc.subject.keyword | congenital Nephrosis | - |
dc.subject.keyword | Phenotype | - |
dc.subject.keyword | Chronic Renal Insufficiency | - |
dc.subject.keyword | genetic renal disease | - |
dc.subject.keyword | kidney transplantation | - |
dc.subject.keyword | molecular genetics | - |
dc.subject.keyword | nephrotic syndrome | - |
dc.subject.keyword | pediatric | - |
dc.contributor.alternativeName | Gee, Heon Yung | - |
dc.contributor.affiliatedAuthor | Gee, Heon Yung | - |
dc.citation.volume | 13 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 53 | - |
dc.citation.endPage | 62 | - |
dc.identifier.bibliographicCitation | CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, Vol.13(1) : 53-62, 2018 | - |
dc.identifier.rimsid | 59654 | - |
dc.type.rims | ART | - |
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