In affected members of a family segregating Diamond-Blackfan anemia, Gazda et al. (2006) detected no mutations in the RPS20 (603682) or RPL7 (604166) genes in the critical region on 8q, but they identified a heterozygous nonsense mutation in ... In affected members of a family segregating Diamond-Blackfan anemia, Gazda et al. (2006) detected no mutations in the RPS20 (603682) or RPL7 (604166) genes in the critical region on 8q, but they identified a heterozygous nonsense mutation in exon 4 of the RPS24 gene on chromosome 10q22-q23 (602412.0001). Gazda et al. (2006) subsequently sequenced RPS24 in 185 unrelated probands with DBA, representing both familial and sporadic cases. They found another nonsense mutation in exon 2 in a transfusion-dependent patient (602412.0002), and a deletion/insertion mutation at the intron 1/exon 2 boundary in a steroid-dependent patient and his father (602412.0003). The father did not have any signs of anemia at that time; however, during childhood he presented with multiple heart anomalies, elevated erythrocyte adenosine deaminase activity (eADA), and moderate anemia, which was resistant to iron treatment and at that time was attributed to his cardiac abnormalities. No RPS24 mutation was found among 210 control individuals. Gazda et al. (2006) concluded that the RPS24 gene is mutated in approximately 2% of RPS19 (603474) mutation-negative DBA probands. Landowski et al. (2013) performed array CGH for copy number variation in 87 probands with Diamond-Blackfan anemia who were negative for mutation in 10 known DBA-associated ribosomal protein genes and identified a large de novo deletion in the RPS24 gene (602412.0004) in a steroid-dependent male patient.