ArticlePediatric nephrology (Berlin, Germany)2012
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.
Article in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- A Case Report of Renal Coloboma Syndrome.Kidney medicine · 2026Article
- 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
- Clinical Characteristics and Genetic Variants in Children withMedicina (Kaunas, Lithuania) · 2025Article
- Review
- Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.Experimental biology and medicine (Maywood, N.J.) · 2023Article
- PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database.International journal of molecular sciences · 2023Article
- The term CAKUT has outlived its usefulness: the case for the defense.Pediatric nephrology (Berlin, Germany) · 2022Review
- Detection ofFrontiers in genetics · 2022Article
- Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations.Clinical nephrology. Case studies · 2022Article
- Papillorenal syndrome: a systemic diagnosis not to be missed on funduscopy.BMJ case reports · 2021Article
- A new mutation in the PAX2 gene in a Papillorenal Syndrome patient.American journal of ophthalmology case reports · 2019Article
- Diverse phenotypes in children with PAX2-related disorder.Molecular genetics & genomic medicine · 2019Article
- Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.PloS one · 2015Article
- Next-generation sequencing for research and diagnostics in kidney disease.Nature reviews. Nephrology · 2014Review
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.Clinical kidney journal · 2013Article
- Association between graves' disease and renal coloboma syndrome: a case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2013Article
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6 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundRenal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities. It is associated in about 50 % of cases with mutations of PAX2, a gene encoding a transcription factor required during development. CASE-DIAGNOSIS/TREATMENT: The case study involves two monozygotic twin sisters with RCS showing highly discordant phenotypes. Twin 1 was antenatally diagnosed with multiple cysts in the right kidney. She had complicated vacuum-assisted delivery with acute renal failure. She developed proteinuria at age 4 years, followed by a progressive rise in serum creatinine requiring renal replacement therapy at age 22. No ocular abnormalities have been detected. Twin 2 experienced rapidly reversible acute renal failure without renal morphological abnormalities at birth. At age 2 years, complete visual acuity loss of the left eye secondary to an optic disc coloboma was diagnosed. No significant events occurred until the age of 20, when clinical proteinuria was detected. Proteinuria remission was obtained by multidrug treatment. In both patients, a novel de novo mutation of PAX2 was detected, which leads to the substitution of a highly conserved cysteine (p.C52Y).
conclusionsThe patients described provide an extreme example of clinical variability in RCS. The role of environmental, genetic, and epigenetic factors is discussed.
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