Doherty et al. (2010) sequenced 35 ribosomal protein genes in a cohort of 117 patients with Diamond-Blackfan anemia who were negative for mutation in 7 known DBA genes and identified 9 mutations in the RPS26 gene in 12 ... Doherty et al. (2010) sequenced 35 ribosomal protein genes in a cohort of 117 patients with Diamond-Blackfan anemia who were negative for mutation in 7 known DBA genes and identified 9 mutations in the RPS26 gene in 12 probands (see, e.g., 603701.0001-603701.0005). None of the mutations were found in at least 520 chromosomes from a control population of similar, largely European origin. Doherty et al. (2010) noted that 1 of the mutation-positive patients (see 603701.0002) had cleft lip and palate, making RPS26 the third gene causing DBA, the other 2 being RPL5 (603634) and RPL11 (604175), in which mutation is associated with clefting. The authors estimated that RPS26 mutations are present in about 6.4% of the overall DBA population. 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 deletion encompassing all 4 exons of the RPS26 gene (603701.0006) in a transfusion-dependent female patient.