10 NOVEL MUTATIONS FOUND IN ANIRIDIA

Aniridia (AN) is a sight-threatening congenital ocular disorder charac terized by iris hypoplasia, corneal pannus, foveal and optic nerve hyp oplasia, cataract formation, and glaucoma, In two-thirds of the patien ts, AN is inherited in an autosomal dominant fashion with almost compl ete penetrance but variable expression. The remaining cases are sporad ic, Aniridia has been shown to be associated with mutations in the PAX 6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor pre disposition gene (WT1),This paper describes 14 mutations in the PAX6 g ene in patients with AN. Among these 14 mutations, 10 have been unpubl ished until now. They result most probably in haploinsufficiency and c onsequently in a reduced protein level of functional PAX6 protein. The mutations reported here are scattered all over the gene, including th e paired-box, the glycine rich region, the homeobox, and the proline-s erine-threonine (PST)-rich region, (C) 1998 Wiley-Liss, Inc.