This way, the smallest deletion found in controls was a de novo heterozygous 3.3 Kb deletion of three exons (exon 5a, 6 and 7) of PAX6 in a sporadic case of isolated aniridia (ANIRIDIA-039), that had been thought to affect only exons 6 and 7 by MLPA analysis. This evidence concerns the gene PAX6 and aniridia.