PAX6 MUTATIONS IN ANIRIDIA

Aniridia is a congenital malformation of the eye, chiefly characterise d by iris hypoplasia, which can cause blindness. The PAX6 gene was iso lated as a candidate aniridia gene by positional cloning from the smal lest region of overlap of aniridia-associated deletions. Subsequently PAX6 intragenic mutations were demonstrated in Smalleye, a mouse mutan t which is an animal model for aniridia, and six human aniridia patien ts. In this paper we describe four additional PAX6 point mutations in aniridia patients, both sporadic and familial. These mutations highlig ht regions of the gene which are essential for normal PAX6 function. I n addition, the frequency at which we have found PAX6 mutations sugges ts that lesions in PAX6 will account for most cases of aniridia.