For the remaining 4/11 cases diagnosed clinically as DBA, no pathogenic mutations were identified and MLPA excluded deletions in RPL11, RPL35A, RPS17, RPS19, RPS26 and RPL5. Interestingly, the panel identified one additional patient with a previously reported RPS19 mutation (Willig et al, 1999). This evidence concerns the gene RPS17 and Diamond-Blackfan anemia.