POLR3A and Wolcott-Rallison syndrome: Since then, studies have presented POLR3A biallelic variants that alter splicing and/or truncate translation and are associated with WRS, such as c.1909þ18G>A and c.2617C>T (Jay et al., 2016), c.3337-5T>A, c.3337-11T>C, c.490+1G>A, c.2005C>T, c.760C>T, c.1572+1G>A, c.2617-1G>A, c.3G>T and c.*18C>T (Wambach et al., 2018), all found in clinical and genetic analysis of WRS patients.