Of nine patients with DBA, RPS17, RPL35A, and RPS19 deletions were identified in 4, 2, and 1 patients, respectively, and the remaining two patients had pathogenic variants of RPS19 and RPS26. Patients with DBA had significantly lower reticulocyte counts than those without DBA (P = 0.04). The gene discussed is RPS17; the disease is Diamond-Blackfan anemia.