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

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 RP517 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 brosynthesis. This is the third case of DBA flow a RPS17 mutation in the literature and is the second case of a RPS17 mutation in the translation initiation codon, following c 2T>G. Pediatr Blood Cancer 2010,54 629-631 (C) 2009 Wiley-Liss, Inc