Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that 
usually presents during the first year of life. The main features of the disease 
are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent 
erythroid progenitors in the bone marrow. The patients also present with growth 
retardation and craniofacial, upper limb, heart and urinary system congenital 
malformations in ~30-50 % of cases. The disease has been associated with point 
mutations and large deletions in ten ribosomal protein (RP) genes RPS19, RPS24, 
RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10, RPS26, and RPL26 and GATA1 in about 
60-65 % of patients. Here, we report a novel large deletion in RPL15, a gene not 
previously implicated to be causative in DBA. Like RPL26, RPL15 presents the 
distinctive feature of being required both for 60S subunit formation and for 
efficient cleavage of the internal transcribed spacer 1. In addition, we 
detected five deletions in RP genes in which mutations have been previously 
shown to cause DBA: one each in RPS19, RPS24, and RPS26, and two in RPS17. 
Pre-ribosomal RNA processing was affected in cells established from the patients 
bearing these deletions, suggesting a possible molecular basis for their 
pathological effect. These data identify RPL15 as a new gene involved in DBA and 
further support the presence of large deletions in RP genes in DBA patients.