%0 Case Reports
%T Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.
%A Syrimis A
%A Nicolaou N
%A Alexandrou A
%A Papaevripidou I
%A Nicolaou M
%A Loukianou E
%A Christophidou-Anastasiadou V
%A Malas S
%A Sismani C
%A Tanteles GA
%J J Genet
%V 97
%N 2
%D 06 2018
%M 29932076
%F 1.508
%X 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 (PAX6), but some carry deletions involving the 11p13 region, encompassing partly or completely PAX6 or the region downstream. We identified a novel deletion, ~564 kb in size located about 46.5 kb downstream of PAX6 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 PAX6 in patients with aniridia and/or other congenital malformations and define the overlapping region that leads to aniridia when deleted.