ArticleJournal of medical genetics1998
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 73 citations in OpenAlex.
- A Single Cell Atlas of the Newt Iris During Lens Regeneration.bioRxiv : the preprint server for biology · 2025Article
- The Role of PAX2 in Neurodevelopment and Disease.Neuropsychiatric disease and treatment · 2021Review
- Male infertility and genitourinary birth defects: there is more than meets the eye.Fertility and sterility · 2020Review
- 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
- Congenital anomalies of kidney and hand: a review.Clinical kidney journal · 2013Article
- Graded levels of Pax2a and Pax8 regulate cell differentiation during sensory placode formation.Development (Cambridge, England) · 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
- The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.Human molecular genetics · 2011Article
- PAX6 gene analysis in irido-fundal coloboma.Molecular vision · 2011Article
- Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.Molecular vision · 2009Article
- A clinico-genetic study of renal coloboma syndrome in children.Pediatric nephrology (Berlin, Germany) · 2007Article
- The familial contribution to non-syndromic ocular coloboma in south India.The British journal of ophthalmology · 2003Article
- National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.Journal of medical genetics · 2002Article
- PAX2 suppresses apoptosis in renal collecting duct cells.The American journal of pathology · 2000Article
- The homeodomain protein vax1 is required for axon guidance and major tract formation in the developing forebrain.Genes & development · 1999Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital tract, optic nerve and adjacent retina, inner ear, and CNS. In this paper we have investigated the prevalence of PAX2 mutations in patients with ocular colobomas, microphthalmos, or retinal anomalies, either in isolation or with associated urogenital anomalies. Using PCR-SSCP, most or all exons of PAX2 were examined in blood DNA from 99 patients who have either ocular anomalies alone or a combination of ocular and urogenital conditions. PAX2 mutations were not detected in patients with ocular colobomas, either in isolation or with associated abnormalities, except in one patient with typical renal-coloboma syndrome. We conclude that PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renal-coloboma syndrome where PAX2 is known to be the aetiological cause.
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