ArticleJournal of human genetics2019
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Adult-Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated WithKidney medicine · 2025Article
- Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.Human genetics · 2025Article
- Nucleoporin-associated steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Review
- Advances in the understanding of nuclear pore complexes in human diseases.Journal of cancer research and clinical oncology · 2024Review
- Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.Italian journal of pediatrics · 2024Article
- Steroid-Resistant Nephrotic Syndrome Caused byJournal of clinical medicine · 2023Article
- A rare cause of steroid-resistant nephrotic syndrome - a case report.Central-European journal of immunology · 2023Article
- NUP160 knockdown inhibits the progression of diabetic nephropathyRegenerative therapy · 2022Article
- An introduction to dynamic nucleoporins inJournal of parasitic diseases : official organ of the Indian Society for Parasitology · 2022Review
- Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.Pediatric nephrology (Berlin, Germany) · 2022Article
- The Contribution ofFrontiers in medicine · 2022Review
- Nucleoporin 160 (NUP160) inhibition alleviates diabetic nephropathy by activating autophagy.Bioengineered · 2021Article
- End-stage renal disease in a child with focal segmental glomerulosclerosis associated with a homozygousClinical case reports · 2021Article
- Nuclear pore complexes in development and tissue homeostasis.Development (Cambridge, England) · 2020Review
- Mutated NUP188 and Other Nucleoporins as Gateways to Developmental Syndromes.Molecular syndromology · 2020Article
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Advances in molecular genetics have revealed that approximately 30% of cases with steroid-resistant nephrotic syndrome (SRNS) are caused by single-gene mutations. More than 50 genes are responsible for SRNS. One such gene is the nucleoporin, 93-KD (NUP93). Thus far, few studies have reported mutations of NUP93 in SRNS. Here, we describe an NUP93 biallelic mutation in a 9-year-old boy with focal segmental glomerular sclerosis (FSGS). Notably, one mutation comprised an intronic variant; we conducted in vivo and in vitro analysis to characterize this variant. We found two heterozygous mutations in NUP93: c.2137-18G>A in intron 19 and a novel nonsense mutation c.727A>T (p.Lys243*) in exon 8. We conducted RNA sequencing and in vitro splicing assays by using minigene construction, combined with protein expression analysis to determine the pathogenicity of the intronic variant. Both RNA sequencing and in vitro splicing assay showed exon 20-skipping by the intronic variant. In protein expression analysis, aberrant subcellular localization with small punctate vesicles in the cytoplasm was observed for the intronic variant. Taken together, we concluded that c.2137-18G>A was linked to pathogenicity due to aberrant splicing. NUP93 variants are quite rare; however, we have shown that even intronic variants in NUP93 can cause SRNS. This study provides a fundamental approach to validate the intronic variant, as well as new insights regarding the clinical spectrum of SRNS caused by rare gene variants.
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