So far, 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, including deletions, missense, nonsense and splice mutations4–17. The gene discussed is BLOC1S3; the disease is Diamond-Blackfan anemia.