Whole Genome Sequencing to Detect Small Deletions in Ribosomal Protein Genes in Diamond Blackfan Anemia Patients

Diamond Blackfan Anemia (DBA) is characterized by profound anemia due to red cell aplasia (Vlachos, Blanc and Lipton 2014; Clinton and Gazda 2016). Mutations in ribosomal protein (RP) genes involved in the biogenesis of the small and large ribosomal subunits are detected in approximately 65% of patients and display an autosomal dominant pattern of inheritance. In addition, rare recessive mutations in the GATA1, TSR2, CECR1, and EPO genes have...