We have recently demonstrated haploinsufficiency of the ribosomal gene RPS14 in the haematopoietic stem cells (HSC) in patients with the 5q− syndrome (Boultwood et al, 2007) and have suggested that it represents a good candidate gene based on analogy with Diamond-Blackfan anaemia (DBA). Here, RPS14 is linked to Diamond-Blackfan anemia.