To date, heterozygous mutations in 19 RP genes (RPS7, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPL5, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A) have been identified in DBA patients [17,18]. Here, BLOC1S3 is linked to Diamond-Blackfan anemia.