To date, mutations in 19 RP genes (RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10, RPS26, RPL26, RPL15, RPL31, RPS29, RPS28, RPL27, RPS27, RPS15A, RPL35, RPL18) have been identified in DBA patients (Cmejla, Cmejlova, Handrkova, Petrak, & Pospisilova, 2007; Doherty et al., 2010; Draptchinskaia et al., 1999; Farrar et al., 2008, 2014; Gazda et al., 2006, 2008, 2012; Gripp et al., 2014; Ikeda et al., 2017; Landowski et al., 2013; Mirabello et al., 2014, 2017; Wang et al., 2015). This evidence concerns the gene BLOC1S3 and Diamond-Blackfan anemia.