While the DBA-associated germline mutations in RP genes are usually different from the cancer-associated somatic mutations, with only several variants in common,223 it is proposed that mutations in RPs can lead to common effects in deregulating ribosome synthesis and function by either reducing the number of competent ribosomes or forming heterogenous ribosomes (Fig. 3). Here, BLOC1S3 is linked to Diamond-Blackfan anemia.