ArticlePediatric nephrology (Berlin, Germany)2007
A clinico-genetic study of renal coloboma syndrome in children.
Article in Pediatric nephrology (Berlin, Germany), 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 42 citations in OpenAlex.
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- The Role of PAX2 in Neurodevelopment and Disease.Neuropsychiatric disease and treatment · 2021Review
- New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.Clinical medicine insights. Pediatrics · 2021Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
- Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.Pediatric nephrology (Berlin, Germany) · 2019Observational
- 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
- Keeping an eye on SOXC proteins.Developmental dynamics : an official publication of the American Association of Anatomists · 2015Review
- Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.PloS one · 2015Article
- Mutations in PAX2 associate with adult-onset FSGS.Journal of the American Society of Nephrology : JASN · 2014Article
- Alport-like glomerular basement membrane changes with renal-coloboma syndrome.Pediatric nephrology (Berlin, Germany) · 2012Article
- Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.Human mutation · 2012Article
- Renal coloboma syndrome.European journal of human genetics : EJHG · 2011Review
- Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.European journal of human genetics : EJHG · 2011Article
- HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.Pediatric nephrology (Berlin, Germany) · 2011Article
- Renal malformations associated with mutations of developmental genes: messages from the clinic.Pediatric nephrology (Berlin, Germany) · 2010Review
- Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.PLoS genetics · 2010Article
- Diagnosing papillorenal syndrome: see the optic papilla.Pediatric nephrology (Berlin, Germany) · 2008Article
- A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.Pediatric nephrology (Berlin, Germany) · 2008Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Renal coloboma syndrome (RCS) is an autosomal dominant disorder caused by PAX2 gene mutations and characterized by renal hypoplasia and optic disc coloboma. The clinical findings were retrospectively reviewed, and all coding regions of the PAX2 gene were sequenced, in six children with RCS. A c.619_620insG mutation was detected in five patients, including two siblings, and a novel p.Arg104X mutation was detected in one patient. All the patients had progressive renal dysfunction and bilateral hypoplastic kidneys without vesicoureteral reflux (VUR), but the rate of progression to end-stage renal disease showed some diversity. The ocular manifestations showed wide variability, ranging from subtle optic disc anomalies to microphthalmia. In one family with two affected siblings, maternal germline mosaicism was suggested by an intragenic microsatellite marker study. In conclusion, there are variable renal and ocular manifestations in RCS without significant phenotype-genotype correlations. VUR is not a cardinal renal manifestation of RCS. The possibility of germline mosaicism should be considered during molecular diagnosis and genetic counseling for PAX2 mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.