Cmejla et al. (2007) screened the RPS17 gene in 124 Czech patients with Diamond-Blackfan anemia, 6 of whom were already known to carry a heterozygous mutation in the RPS19 gene (603474), and identified a heterozygous mutation abolishing the ... Cmejla et al. (2007) screened the RPS17 gene in 124 Czech patients with Diamond-Blackfan anemia, 6 of whom were already known to carry a heterozygous mutation in the RPS19 gene (603474), and identified a heterozygous mutation abolishing the translation initiation start codon of the RPS17 gene (180472.0001) in a 31-year-old male patient. The mutation was not found in his apparently healthy brother and parents or in 71 controls. In addition to the typical macrocytic anemia with increased activity of erythrocyte adenosine deaminase seen in DBA, the patient had short stature, facial dysmorphism, and a flat thenar eminence. In a male patient who was diagnosed with DBA at 4 months of age and had no associated malformations, Gazda et al. (2008) identified heterozygosity for a 2-bp deletion in the RPS17 gene (180472.0002). The mutation was not found in his unaffected parents or sister, or in at least 150 controls. 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 2 nearly identical large deletions involving exons 3, 4, and 5 of the RPS17 gene (180472.0003) in 2 male patients.