However, as the underlying mutations in at least 20% of patients with DBA syndromes have not yet been identified [212], it is still possible that RPS12 alleles could be responsible for DBA manifestations; in line with this possibility, RPS12 haploinsufficiency in mice leads to an erythropoiesis defect that recapitulates the one found in DBA patients (discussed in [216]). This evidence concerns the gene RPS12 and Diamond-Blackfan anemia.