ASSOCIATION AND INTERACTIONS OF THE RIO KINASES IN THE CONTEXT OF DIAMOND-BLACKFAN ANEMIA

Background and aims: Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow-failure syndrome with erythroblastopenia and other variable, non- hematological phenotypes. DBA is considered as a ribosomopathy since most causative mutations involve genes responsible for composition and maturation of ribosomes. In a patient presenting with DBA but without any known mutations, we identified a micro- duplication of chromosome 6 including the RIOK1 gene locus. RIOK (right open frame kinase) proteins (i.e.