PAX6 is a member of the paired box gene family (PAXs). It encodes a transcriptional regulator involved in oculogenesis and other developmental processes.
Pathology
PAX6 deletion
- aniridia (absence of iris)
- WAGR syndrome
PAX6 germline mutations
- type 2 aniridia
- bilateral cataracts
- congenital cataracts with late-onset corneal dystropohy
- foveal hypolasia (macular hypoplasia)
- autosomal dominant keratitis (MIM.148190)
- corneal stem cell deficiency
- ectopia pupillae (MIM.129750)
- glaucoma
- Peters anomaly
- iris hypoplasia
- corectopia
- coloboma
- ocular syndrome of presenile cataract and foveal hypoplasia (MIM.136520)
- optic nerve coloboma
- bilateral morning glory disc anomaly (MIM.120430)
- foveal hypoplasia
- congenital nystagmus
- anterior segment anomalies (iris hypoplasia or atypical iris coloboma) (MIM.136520)
- optic-nerve hypoplasia/aplasia
- bilateral optic nerve aplasia (MIM.165550)
- isolated foveal hypoplasia (MIM.136520)
- persistent hyperplastic primary vitreous (12721955)
- progressive retinal dystrophy
- multiplex ocular anomalies associating Peters anomaly (MIM.604229), congenital cataract (MIM.604219), Axenfeld anomaly, and/or foveal hypoplasia (MIM.136520).
References
Kozmik Z. Pax genes in eye development and evolution. Curr Opin Genet Dev. 2005 Aug;15(4):430-8. PMID: 15950457
van Heyningen V, Williamson KA. PAX6 in sensory development. Hum Mol Genet. 2002 May 15;11(10):1161-7. PMID: 12015275
Gehring WJ, Ikeo K. Pax 6: mastering eye morphogenesis and eye evolution. Trends Genet. 1999 Sep;15(9):371-7. PMID: 10461206