Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

Hum Mutat. 2007 Dec;28(12):1178-82. doi: 10.1002/humu.20608.


Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia characterized as a normochromic macrocytic anemia with a selective deficiency in red blood cell precursors in otherwise normocellular bone marrow. In 40% of DBA patients, various physical anomalies are also present. Currently two genes are associated with the DBA phenotype--the ribosomal protein (RP) S19 mutated in 25% of DBA patients and RPS24 mutated in approximately 1.4% of DBA patients. Here we report the identification of a mutation in yet another ribosomal protein, RPS17. The mutation affects the translation initiation start codon, changing T to G (c.2T>G), thus eliminating the natural start of RPS17 protein biosynthesis. RNA analysis revealed that the mutated allele was expressed, and the next downstream start codon located at position +158 should give rise to a short peptide of only four amino acids (Met-Ser-Arg-Ile). The mutation arose de novo, since all healthy family members carry the wild-type alleles. The identification of a mutation in the third RP of the small ribosomal subunit in DBA patients further supports the theory that impaired translation may be the main cause of DBA pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anemia, Diamond-Blackfan / genetics*
  • Codon, Initiator
  • Humans
  • Male
  • Mutation*
  • Ribosomal Proteins / genetics*
  • Ribosome Subunits, Small / genetics


  • Codon, Initiator
  • Ribosomal Proteins
  • ribosomal protein S17