Finally, we included a sporadic patient with syndromic aniridia (ANIRIDIA-064) in which MLPA analysis had allowed identifying a deletion of at least 4 Mb affecting PAX6 and several neighboring genes, including ELP4, DCDC1, FSHB and BDNF. Interestingly, WT1 had seemed not to be deleted; thus WAGR syndrome had been excluded in this patient. Here, ELP4 is linked to aniridia.