The first gene mapping studies used linkage analysis of families with DBA to localize a disease‐associated region to 1 Mb on chromosome 19 (Gustavsson et al, 1997), which was later found to be attributable to loss‐of‐function mutations in ribosomal protein (RP) gene RPS19 (Draptchinskaia et al, 1999). This evidence concerns the gene BLOC1S3 and Diamond-Blackfan anemia.