Several studies have reported that biallelic pathogenic variants in CTC1 and STN1 are implicated in the development of Coats plus syndrome and, in rare instances, dyskeratosis congenita (Anderson et al, 2012; Walne et al, 2013; Simon et al, 2016; Passi et al, 2020; Polvi et al, 2012). This evidence concerns the gene CTC1 and Coats plus syndrome.