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      PAX6 aniridia syndrome : clinics, genetics, and therapeutics

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          Abstract

          Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings.

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          Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

          Kendra R Maas, Sherrye Glaser, Jonathan D. Walton (1992)
          Aniridia is a semidominant disorder in which development of the iris, lens, cornea and retina is disturbed. The mouse mutation Small eye (Sey), which has been proposed as a model for aniridia, results from defects in Pax-6, a gene containing paired-box and homeobox motifs that is specifically expressed in the developing eye and brain. To test the role of PAX6 in aniridia, we isolated human cDNA clones and determined the intron-exon structure of this gene. PAX6 spans 22 kilobases and is divided into 14 exons. Analysis of DNA from 10 unrelated aniridia patients revealed intragenic mutations in three familial and one sporadic case. These findings indicate that the human aniridia and murine Small eye phenotypes arise from homologous defects in PAX6.
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            PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.

            J Favor, Kendra R Maas, Sherrye Glaser … (1994)
            The human eye malformation aniridia results from haploinsufficiency of PAX6, a paired box DNA-binding protein. To study this dosage effect, we characterized two PAX6 mutations in a family segregating aniridia and a milder syndrome consisting of congenital cataracts and late onset corneal dystrophy. The nonsense mutations, at codons 103 and 353, truncate PAX6 within the N-terminal paired and C-terminal PST domains, respectively. The wild-type PST domain activates transcription autonomously and the mutant form has partial activity. A compound heterozygote had severe craniofacial and central nervous system defects and no eyes. The pattern of malformations is similar to that in homozygous Sey mice and suggests a critical role for PAX6 in controlling the migration and differentiation of specific neuronal progenitor cells in the brain.
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              The human PAX6 gene is mutated in two patients with aniridia.

              T. Jordan, I. Hanson, Alan Seawright … (1992)
              Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases of sporadic aniridia, one detected at the DNA level and one at the RNA level, both of which are predicted to affect protein function. Mutations in Pax-6 have been described previously in Small eye, the proposed mouse model for aniridia. We present new phenotypic evidence for the validity of this mouse model.
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                Author and article information

                Journal
                Title: Current Opinion in Ophthalmology
                Abbreviated Title: Current Opinion in Ophthalmology
                Publisher: Ovid Technologies (Wolters Kluwer Health)
                ISSN (Print): 1040-8738
                Publication date Created: 2017
                Publication date (Print): September 2017
                Volume: 28
                Issue: 5
                Pages: 436-447
                Article
                DOI: 10.1097/ICU.0000000000000405
                PubMed ID: 28598868
                SO-VID: 933a30fa-b7a8-4981-ac77-217468c6678b
                Copyright © © 2017
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