Abstract
Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the paired box 6 gene (), but some carry deletions involving the 11p13 region, encompassing partly or completely or the region downstream. We identified a novel deletion, ~564 kb in size located about 46.5 kb downstream of in a family with bilateral aniridia and foveal hypoplasia using array-CGH and multiplex ligation-dependent probe amplification. We also reviewall of the reported deletions downstream of in patients with aniridia and/or other congenital malformations and define the overlapping region that leads to aniridia when deleted.
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