ArticleClinical kidney journal2013
A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
Article in Clinical kidney journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Reno-ocular syndromes: pathophysiological mechanisms linking kidney and ocular disorders.Pediatric nephrology (Berlin, Germany) · 2026Review
- A Case Report of Renal Coloboma Syndrome.Kidney medicine · 2026Article
- 'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.BMJ case reports · 2025Article
- New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.Clinical medicine insights. Pediatrics · 2021Article
- Rare genetic causes of complex kidney and urological diseases.Nature reviews. Nephrology · 2020Review
- Clinical Genetic Screening in Adult Patients with Kidney Disease.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.BMC nephrology · 2018Review
- Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.Case reports in nephrology and dialysisArticle
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family with a PAX2 mutation who showed variable eye and renal phenotypes. Renal phenotypes ranged from normal kidneys with the absence of proteinuria to end-stage renal disease (ESRD) at 17 years of age. Eye phenotypes included the typical morning glory anomaly, macular retinal pigment epithelial changes and retinal venous tortuosity. We identified a PAX2 mutation c.228_251dup [p.Ser77_Gly84dup] which segregated with the phenotype in an autosomal dominant fashion. A molecular genetic diagnosis allowed identification and management of at-risk family members. Given the phenotypic variability, clinicians need to consider the possibility of RCS in patients with a family history of chronic kidney disease (CKD) or eye disease.
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