To characterise the molecular abnormalities in DBA non-haematopoietic cells, we evaluated gene expression profiles of fibroblasts isolated from DBA patients carrying mutations in RPS19. Patients 1 and 2 carried mutations leading to amino acid substitutions (p.Arg62Trp and p.Arg101His), the mutation in patient 3 (c.1-1G>A) impairs the correct splicing of the first intron and abrogates the ATG start codon, whereas the mutation in patient 4 (c.del58G) causes a frameshift of the open reading frame with insertion of a premature stop codon. This evidence concerns the gene RPS19 and Diamond-Blackfan anemia.