ArticleCase reports in nephrology and dialysis
Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.
Article in Case reports in nephrology and dialysis. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 15 citations in OpenAlex.
- C3 Glomerulonephritis in a Child with Renal Coloboma Syndrome.Indian journal of pediatrics · 2025Article
- Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract andKidney international reports · 2025Article
- A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2025Review
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- Review
- Papillorenal syndrome: a systemic diagnosis not to be missed on funduscopy.BMJ case reports · 2021Article
- A novelAmerican journal of ophthalmology case reports · 2021Article
- Article
- Clinical and genetic variability of PAX2-related disorder in the Japanese population.Journal of human genetics · 2020Article
- Diverse phenotypes in children with PAX2-related disorder.Molecular genetics & genomic medicine · 2019Article
- New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.BMC nephrology · 2018Review
- Article
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A common renal phenotype of paired box protein 2 (PAX2) mutations is renal coloboma syndrome. We report a single family with diverse renal phenotypes associated with PAX2 mutation. The proband presented steroid-resistant focal segmental glomerulosclerosis with optic coloboma, whereas his two sons showed severe renal hypoplasia with end-stage renal disease, with or without optic coloboma. In all three cases, a heterozygous PAX2 genetic mutation was identified (exon 2; NM_003987.3:c.76dupG, p.Val26Glyfs*28). Based on histopathological findings of the proband, we hypothesized that autophagic dysfunction was associated with the pathophysiology of the focal segmental glomerulosclerosis with PAX2 mutation. Detailed funduscopic examination - including the optic disc - might be useful for the diagnosis of renal anomalies associated with PAX2 mutation.
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