According to the literature, most of the pathogenic variants in our cohort (as the majority of reported variants) fall within the IRBIT binding domain, where lie most of the mutations associated with SCA29, while variants that cause Gillespie syndrome are mostly located at the C-terminus of the protein, especially in the transmembrane domain [9]. The gene discussed is AHCYL1; the disease is Aniridia - cerebellar ataxia - intellectual disability.