The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

ABSTRACT: The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. During eye development, it is essential for the correct patterning and formation of the multi-layered optic cup and it is involved in the developing lens and corneal epithelium. In adulthood, it is mostly expressed in cornea, iris, and lens. PAX6 is a dosage-sensitive gene and it is highly regulated by several elements located upstream, downstream, and within the gene. There are more than 500 different mutations described to affect PAX6 and its regulatory regions, the majority of which lead to PAX6 haploinsufficiency, causing several ocular and systemic abnormalities. Aniridia is an autosomal dominant disorder that is marked by the complete or partial absence o

SUBMITTER: Lima Cunha D 

PROVIDER: S-EPMC6947179 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature