Review of available data revealed seven publications describing isolated individuals (7) or families (5) with IMAGe syndrome and adrenal insufficiency, who had pathogenic variants in a key region of the PCNA-binding domain of CDKN1C affecting codons 272, 274, 276, 278 and 279 (Figure 1,Table 2) (Arboledaet al., 2012;Bodianet al., 2014;Brioudeet al., 2013;Hamajimaet al., 2013;Katoet al., 2014;Kernset al., 2014;Sabiret al., 2019). This evidence concerns the gene PCNA and IMAGe syndrome.