ArticlePediatric nephrology (Berlin, Germany)2018
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Article in Pediatric nephrology (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Genetic mutation patterns in Indonesian children with primary steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases.Cellular and molecular life sciences : CMLS · 2026Review
- Clinical and genetic diagnosis of a patient with focal segmental glomerulosclerosis due to a novel variant of the ANLN gene.CEN case reports · 2026Article
- Case Report: Pediatric nephrology-expanding the genotypic spectrum ofFrontiers in medicine · 2026Article
- Adult-Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated WithKidney medicine · 2025Article
- Exploring genotype-phenotype correlation in nucleoporin nephropathy.Pediatric research · 2025Article
- Review
- Nucleoporin-associated steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Review
- Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis.Clinical and experimental nephrology · 2024Article
- New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.Pediatric nephrology (Berlin, Germany) · 2024Article
- Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.Italian journal of pediatrics · 2024Article
- Estimation of the Age of the Kashubian-Specific PathogenicHuman mutation · 2024Article
- Steroid-Resistant Nephrotic Syndrome Caused byJournal of clinical medicine · 2023Article
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.Italian journal of pediatrics · 2023Article
- A rare cause of steroid-resistant nephrotic syndrome - a case report.Central-European journal of immunology · 2023Article
- Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.Journal of applied genetics · 2022Review
- From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research.Life (Basel, Switzerland) · 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
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSteroid-resistant nephrotic syndrome (SRNS) has a heterogeneous spectrum of monogenic causes that substantially differ among populations. The aim of this study was to analyse the genetic aetiology of SRNS in Czech and Slovak paediatric patients.
methodsWe analysed clinical data from 74 patients (38 boys) with congenital (15%), infant (14%), and childhood-onset (71%) SRNS collected from the Czech Republic and Slovakia from 2000 to 2017 (inclusive). The DNA samples were first analysed by Sanger sequencing (genes NPHS2, NPHS1, and WT1) and then by next generation sequencing (NGS) using a targeted panel of 48 genes previously associated with SRNS. Family segregation of the causative variants was confirmed by Sanger sequencing when possible.
resultsGenetic diagnosis was established in 28/74 patients (38%) based on findings of pathogenic or likely pathogenic causative variants in genotypes conforming to the expected mode of inheritance. Sanger sequencing diagnosed 26% of patients, whereas second-tier testing by a targeted NGS panel diagnosed a further 12%. Frequent causative genes were NPHS2 (15%), WT1 (9.5%), and surprisingly NUP93 with four (5.4%) unrelated cases. Additional causative genes included COQ2 (two patients), NPHS1, INF2, DGKE, and LMX1B (one patient each).
conclusionsCompared with outright use of NGS, our tiered genetic testing strategy was considerably more rapid and marginally less expensive. Apart from a high aetiological fraction of NPHS2 and WT1 genes, our study has identified an unexpectedly high frequency of a limited set of presumably ancestral causative mutations in NUP93. The results may aid in tailoring testing strategies in Central European populations.
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