Moreover, a possible connection between RPL3 and RPL4 variants and DBA is suggested by the identification of missense mutations both in RPL3 (one DBA patient; His11 to Arg substitution, unknown significance for disease manifestation) and RPL4 (one individual with DBA-like phenotypes; Val-Leu insertion between Ala58 and Gly59) (Gazda et al., 2012; Jongmans et al., 2018). This evidence concerns the gene RPL3 and Diamond-Blackfan anemia.