Summary of DBA genotypes. Summary of the frequency of various mutant RP genes in DBA-affected patients compiled from published data from national registries. In ∼20% of the DBA cases, no genotype was identified after extensive sequencing (targeted next-generation sequencing) and screening for large deletions (quantitative polymerase chain reaction, multiplex ligation-dependent probe amplification, comparative genomic hybridization). It is anticipated that whole-exome sequencing or whole-genome sequencing (WGS) may fill this gap.