ArticleBMC nephrology2022
CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children.
Article in BMC nephrology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 22 citations in OpenAlex.
- Genetic mutation patterns in Indonesian children with primary steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Clinical course of proteinuria due to cubilin variants: a large multicenter pediatric cohort.Pediatric nephrology (Berlin, Germany) · 2026Article
- Clinical and Genetic Insights Into Isolated Proteinuria WithKidney international reports · 2026Article
- A Pilot Study of Urinary Cubilin Shedding in Type 1 Diabetes Mellitus: A Potential Biomarker to Predict Nephropathy.Journal of diabetes research · 2026Article
- Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.Pediatric nephrology (Berlin, Germany) · 2025Review
- Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report.Kidney medicine · 2025Article
- Identification of CUBN variants in triplets with a 20-year history of proteinuria.CEN case reports · 2025Article
- To treat or not to treat: CUBN-associated persistent proteinuria.Kidney research and clinical practice · 2024Article
- Controversy between biopsy and risk in children with proteinuria: is there a paradigm war?BMC nephrology · 2024Article
- A Review of Focal Segmental Glomerulosclerosis Classification With a Focus on Genetic Associations.Kidney medicine · 2024Article
- Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria.Molecular genetics & genomic medicine · 2024Article
- Insights into human kidney function from the study of Drosophila.Pediatric nephrology (Berlin, Germany) · 2023Review
- Clinical and genetic characterization of children with cubilin variants.Pediatric nephrology (Berlin, Germany) · 2023Article
- Podocytopathy and Glomerular Basement Membrane Anomalies in Two Patients With Cubilin Gene Mutations.Cureus · 2023Article
- Four missense genetic variants inFrontiers in endocrinology · 2023Article
- Isolated Proteinuria Caused byCase reports in nephrology and dialysisArticle
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Authors and funding
7 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundImerslund-Gräsbeck Syndrome (IGS) is mainly caused by CUBN gene biallelic mutations. Proteinuria accompanies IGS specific symptoms in about half of the patients, isolated proteinuria is rarely reported. Here we present 3 patients with isolated proteinuria and focal segmental glomerulosclerosis (FSGS) caused by CUBN gene biallelic pathogenic variants.
methodWhole exome sequencing was performed on three children with isolated proteinuria. CUBN gene biallelic pathogenic variants were found and then verified by sanger sequencing. Their clinical, pathological and molecular genetic characteristics were analyzed and correlated accordingly.
resultsAll three children presented with isolated proteinuria, no megaloblastic anemia. Their urine levels of β2 microglobulin were normal or slightly higher. Renal biopsies showed focal segmental glomerulosclerosis with mild glomerular mesangial hypercellularity, partial effacement of foot processes and podocyte microvillation. Two of them were found to carry compound heterozygous mutations and one homozygous mutation of CUBN gene. Totally four CUBN gene biallelic pathogenic variants were identified, including c.9287 T > C (p.L3096P), c.122 + 1G > A, c.7906C > T (p.R2636*), c.10233G > A (p.W3411*). Except for intron splice-site mutation, all other variants are located in highly conserved sites of CUB domain for binding to albumin.
conclusionThe results demonstrate that CUBN gene mutations may cause isolated proteinuria pathologically presented as FSGS. Our cases extend the spectrum of renal manifestation and genotype of CUBN gene mutations.
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