scholarly journals Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

2015 ◽  
Vol 97 (4) ◽  
pp. 555-566 ◽  
Author(s):  
Noriko Miyake ◽  
Hiroyasu Tsukaguchi ◽  
Eriko Koshimizu ◽  
Akemi Shono ◽  
Satoko Matsunaga ◽  
...  
Keyword(s):  
Early Childhood ◽  
Nephrotic Syndrome ◽  
Nuclear Pore Complex ◽  
Nuclear Pore ◽  
Childhood Onset ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Biallelic Mutations

scholarly journals Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome

2019 ◽  
Vol 30 (5) ◽  
pp. 840-853 ◽  
Author(s):  
Feng Zhao ◽  
Jun-yi Zhu ◽  
Adam Richman ◽  
Yulong Fu ◽  
Wen Huang ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Nuclear Pore Complex ◽  
Mutant Allele ◽  
Nuclear Pore ◽  
Compound Heterozygous ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Whole Exome ◽  
Protein Components

BackgroundStudies have identified mutations in >50 genes that can lead to monogenic steroid-resistant nephrotic syndrome (SRNS). The NUP160 gene, which encodes one of the protein components of the nuclear pore complex nucleoporin 160 kD (Nup160), is expressed in both human and mouse kidney cells. Knockdown of NUP160 impairs mouse podocytes in cell culture. Recently, siblings with SRNS and proteinuria in a nonconsanguineous family were found to carry compound-heterozygous mutations in NUP160.MethodsWe identified NUP160 mutations by whole-exome and Sanger sequencing of genomic DNA from a young girl with familial SRNS and FSGS who did not carry mutations in other genes known to be associated with SRNS. We performed in vivo functional validation studies on the NUP160 mutations using a Drosophila model.ResultsWe identified two compound-heterozygous NUP160 mutations, NUP160R1173× and NUP160E803K. We showed that silencing of Drosophila NUP160 specifically in nephrocytes (fly renal cells) led to functional abnormalities, reduced cell size and nuclear volume, and disorganized nuclear membrane structure. These defects were completely rescued by expression of the wild-type human NUP160 gene in nephrocytes. By contrast, expression of the NUP160 mutant allele NUP160R1173× completely failed to rescue nephrocyte phenotypes, and mutant allele NUP160E803K rescued only nuclear pore complex and nuclear lamin localization defects.ConclusionsMutations in NUP160 are implicated in SRNS. Our findings indicate that NUP160 should be included in the SRNS diagnostic gene panel to identify additional patients with SRNS and homozygous or compound-heterozygous NUP160 mutations and further strengthen the evidence that NUP160 mutations can cause SRNS.

scholarly journals Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

2016 ◽  
Vol 48 (4) ◽  
pp. 457-465 ◽  
Author(s):  
Daniela A Braun ◽  
Carolin E Sadowski ◽  
Stefan Kohl ◽  
Svjetlana Lovric ◽  
Susanne A Astrinidis ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Nuclear Pore ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

2014 ◽  
Vol 9 (6) ◽  
pp. 1109-1116 ◽  
Author(s):  
Svjetlana Lovric ◽  
Humphrey Fang ◽  
Virginia Vega-Warner ◽  
Carolin E. Sadowski ◽  
Heon Yung Gee ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Rapid Detection ◽  
Childhood Onset ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome

2008 ◽  
Vol 19 (10) ◽  
pp. 1871-1878 ◽  
Author(s):  
Aurélie Philippe ◽  
Fabien Nevo ◽  
Ernie L. Esquivel ◽  
Dalia Reklaityte ◽  
Olivier Gribouval ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Childhood Onset ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome

2018 ◽  
Vol 71 (3) ◽  
pp. 399-406 ◽  
Author(s):  
Adebowale Adeyemo ◽  
Christopher Esezobor ◽  
Adaobi Solarin ◽  
Asiri Abeyagunawardena ◽  
Jameela A. Kari ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Childhood Onset ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Steroid Sensitive ◽  
Hla Dqa1

A rare cause of steroid-resistant nephrotic syndrome in a child: Answers

2019 ◽  
Vol 35 (4) ◽  
pp. 621-623
Author(s):  
Lale Guliyeva ◽  
Yılmaz Tabel ◽  
Ali Düzova ◽  
Nusret Akpolat ◽  
Seza Özen ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Suramath Isaranuwatchai ◽  
Ankanee Chanakul ◽  
Chupong Ittiwut ◽  
Chalurmpon Srichomthong ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Kidney Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Treatment Plan ◽  
Unknown Etiology ◽  
Pediatric Case ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Whole Exome

Chronic kidney disease of unknown etiology (CKDu) has been a problem in renal practice as indefinite diagnosis may lead to inappropriate management. Here, we report a 54-year-old father diagnosed with CKDu at 33 years old and his 8-year-old son with steroid-resistant nephrotic syndrome. Using whole-exome sequencing, both were found to be heterozygous for c.737G>A (p.Arg246Gln) in LMX1B. The diagnosis of LMX1B-associated nephropathy has led to changes in the treatment plan with appropriate genetic counseling. The previously reported cases with this particular mutation were also reviewed. Most children with LMX1B-associated nephropathy had nonnephrotic proteinuria with normal renal function. Interestingly, our pediatric case presented with steroid-resistant nephrotic syndrome at 8 years old and progressed to ESRD requiring peritoneal dialysis at the age of 15 years. Our report emphasized the need of genetic testing in CKDu for definite diagnosis leading to precise management.

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