The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

摘要: Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, frequently associated with variety of malformations. To identify the gene involved in DBA, we cloned 19q13 breakpoint patient reciprocal X;19 translocation. occurred encoding ribosomal protein S19. Furthermore, identified mutations RPS19 10 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well two intragenic deletions. These are clinical features that suggest function for erythropoiesis embryogenesis.