ArticleClinical genetics2016
Assessment of PAX6 alleles in 66 families with aniridia.
Article in Clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 43 citations in OpenAlex.
- Progress in Translating Glaucoma Genetics Into the Clinic: A Review.Clinical & experimental ophthalmology · 2025Review
- Ahmed Glaucoma Valve in Aniridia.Clinical ophthalmology (Auckland, N.Z.) · 2025Article
- Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.Journal of medical genetics · 2024Article
- Characterization of neural damage and neuroinflammation in Pax6 small-eye mice.Experimental eye research · 2024Article
- A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.BMC medical genomics · 2023Article
- Visual Acuity in Aniridia and WAGR Syndrome.Clinical ophthalmology (Auckland, N.Z.) · 2023Article
- A rare case of congenital aniridia with an unusual run-on mutation inIndian journal of ophthalmology · 2022Article
- Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.Molecular syndromology · 2022Article
- Relative Frequencies ofInternational journal of molecular sciences · 2022Review
- Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.JCI insight · 2021Observational
- Morphometric analysis of the lens in human aniridia and mouse Small eye.Experimental eye research · 2021Article
- Neural damage and neuroprotection with glaucoma development in aniridia.Current neurobiology · 2021Article
- Global and age-related neuroanatomical abnormalities in a Pax6-deficient mouse model of aniridia suggests a role for Pax6 in adult structural neuroplasticity.Brain research · 2020Article
- Mutation spectrum ofMolecular vision · 2020Article
- The Spectrum ofGenes · 2019Review
- The genetic architecture of aniridia and Gillespie syndrome.Human genetics · 2019Review
- Identification of a novel PAX6 mutation in a Chinese family with aniridia.BMC ophthalmology · 2019Article
- Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.Molecular medicine reports · 2018Article
- Parental Mosaicism inFrontiers in genetics · 2018Article
- Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
We report on PAX6 alleles associated with a clinical diagnosis of classical aniridia in 81 affected individuals representing 66 families. Allelic variants expected to affect PAX6 function were identified in 61 families (76 individuals). Ten cases of sporadic aniridia (10 families) had complete (8 cases) or partial (2 cases) deletion of the PAX6 gene. Sequence changes that introduced a premature termination codon into the open reading frame of PAX6 occurred in 47 families (62 individuals). Three individuals with sporadic aniridia (three families) had sequence changes (one deletion, two run-on mutations) expected to result in a C-terminal extension. An intronic deletion of unknown functional significance was detected in one case of sporadic aniridia (one family), but not in unaffected relatives. Within these 61 families, single nucleotide substitutions accounted for 30/61 (49%), indels for 23/61 (38%), and complete deletion of the PAX6 locus for 8/61 (13%). In five cases of sporadic aniridia (five families), no disease-causing mutation in the coding region was detected. In total, 23 unique variants were identified that have not been reported in the Leiden Open Variation Database (LOVD) database. Within the group assessed, 92% had sequence changes expected to reduce PAX6 function, confirming the primacy of PAX6 haploinsufficiency as causal for aniridia.
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