Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia 
characterized by anemia, bone-marrow erythroblastopenia, and congenital 
anomalies and is associated with heterozygous mutations in the ribosomal protein 
(RP) S19 gene (RPS19) in approximately 25% of probands. We report identification 
of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by 
RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This 
finding strongly suggests that DBA is a disorder of ribosome synthesis and that 
mutations in other RP or associated genes that lead to disrupted ribosomal 
biogenesis and/or function may also cause DBA.