A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia

Pediatr Blood Cancer. 2010 Apr;54(4):629-31. doi: 10.1002/pbc.22316.


Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by pure red cell aplasia, various congenital anomalies, and cancer predisposition. We report a novel mutation in the RPS17 gene in a Korean patient with DBA. The mutation occurred in the translation initiation codon, changing Atg to Gtg (c.1A>G), thus disrupting the natural start of the RPS17 protein biosynthesis. This is the third case of DBA from a RPS17 mutation in the literature and is the second case of a RPS17 mutation in the translation initiation codon, following c.2T>G.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Diamond-Blackfan / genetics*
  • Codon, Initiator / genetics*
  • Humans
  • Infant
  • Male
  • Mutation
  • Polymerase Chain Reaction
  • Ribosomal Proteins / genetics*


  • Codon, Initiator
  • Ribosomal Proteins
  • ribosomal protein S17