“…A previously conducted in RCMG molecular genetic study revealed four patients with the typical clinical picture of congenital aniridia (Table 1) (Vasilyeva, Voskresenskaya, Kasmann‐Kellner, et al, 2017; Vasilyeva et al, 2020), in whom MLPA analysis did not identify large deletions affecting PAX6 and/or its cis ‐regulatory regions and Sanger sequencing of the coding regions and splice sites of PAX6 did not reveal potential causative variants. However, we found variants located within the 5ʹUTR in these patients: two novel variants, that have been classified as variants of uncertain clinical significance (c.‐122dupG (described for the first time), c.‐125dupG (Vasilyeva, Voskresenskaya, Kasmann‐Kellner, et al, 2017) and two variants that were previously reported in unrelated patients and therefore could be classified as likely pathogenic (c.‐128‐2delA (Axton et al, 1997; Plaisancie et al, 2018; Robinson et al, 2008; Vasilyeva, Voskresenskaya, Kasmann‐Kellner, et al, 2017), c.‐118_‐117del (Plaisancie et al, 2018; Vasilyeva et al, 2020)). Clinically these four patients showed almost complete (three patients) or partial aniridia (one patient), foveal hypoplasia (four patients), and nystagmus (three patients).…”