RPL9 gene allelic variation has so far been reported in one DBA-affected individual, however this c.375G>C; p.Arg125Ser variation was declared to be a variant of unknown significance (VUS) since cells from this patient did not show a pre-rRNA processing defect similar to that observed upon knockdown of RPL9 with siRNAs (9). This evidence concerns the gene RPL9 and Diamond-Blackfan anemia.