Through whole-exome sequencing in patients in DBA, several rare mutations in previously unreported RP genes were found4,5, and one such mutation is a novel nonsynonymous mutation (p.L51S) in rpl18 analysis of pre-rRNA processing in patients’ cells showed an increase in the 36S ribosomal subunit compared with controls, indicating a defect in pre-rRNA processing6. This evidence concerns the gene BLOC1S3 and Diamond-Blackfan anemia.