title: A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.
abstract: 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.
authors: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors: Min-Jung
authors: MJ
authors: Song
authors: Eun-Hyung
authors: EH
authors: Yoo
authors: Ki-O
authors: KO
authors: Lee
authors: Gee-Na
authors: GN
authors: Kim
authors: Hee-Jin
authors: HJ
authors: Kim
authors: Sun-Young
authors: SY
authors: Kim
authors: Sun-Hee
authors: SH
authors: Kim
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000235:genetics*; D018387:Codon, Initiator / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012269:Ribosomal Proteins / Q000235:genetics*
chemical_list: D018387:Codon, Initiator; D012269:Ribosomal Proteins; C037084:ribosomal protein S17