ArticleHuman mutation2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.
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Who cites it
94 citing papers in PubMed, 153 citations in OpenAlex.
- 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
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- FOXI3 establishes the ectodermal niche in pharyngeal arches for cranial neural crest cells and their lineages.Bone research · 2026Article
- Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.Clinical case reports · 2026Article
- A Novel Pathogenic Variant inCase reports in obstetrics and gynecology · 2026Article
- Amniotic membrane placement without endotamponade for optic nerve coloboma with extensive serous retinal detachment in papillorenal syndrome: A case report.American journal of ophthalmology case reports · 2025Article
- Ocular clues to a renal diagnosis: classic imaging in renal coloboma syndrome.Journal of nephrology · 2025Article
- Genotype-phenotype correlations and functional characterization of novelRenal failure · 2025Article
- Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract andKidney international reports · 2025Article
- C3 Glomerulonephritis in a Child with Renal Coloboma Syndrome.Indian journal of pediatrics · 2025Article
- Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.Nature reviews. Nephrology · 2025Review
- 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
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- Variable Phenotypic Expression ofMedicina (Kaunas, Lithuania) · 2025Article
- 'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.BMJ case reports · 2025Article
- Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.Scientific reports · 2024Article
- Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?Pediatric nephrology (Berlin, Germany) · 2024Review
- Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant.CEN case reports · 2024Article
34 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
48 authors at 20 institutions in 11 countries.
Funding
Abstract
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome. Review of published cases and the collective diagnostic experience of three laboratories in the United States, France, and New Zealand identified 55 unique mutations in 173 individuals from 86 families. The three clinical laboratories participating in this collaboration contributed 28 novel variations in 68 individuals in 33 families, which represent a 50% increase in the number of variations, patients, and families published in the medical literature. An LSDB was created using the Leiden Open Variation Database platform: www.lovd.nl/PAX2. The most common findings reported in this series were abnormal renal structure or function (92% of individuals), ophthalmological abnormalities (77% of individuals), and hearing loss (7% of individuals). Additional clinical findings and genetic counseling implications are discussed.
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