A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond‐Blackfan anemia |
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| Authors: | Min‐Jung Song MD Eun‐Hyung Yoo MD Ki‐O Lee MT Gee‐Na Kim MD Hee‐Jin Kim MD PhD Sun‐Young Kim MD Sun‐Hee Kim MD PhD |
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| Affiliation: | 1. Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea;2. Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, South Korea;3. Department of Pediatrics, Chungnam National University College of Medicine, Daejeon, South Korea |
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| 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. Pediatr Blood Cancer 2010;54:629–631. © 2009 Wiley‐Liss, Inc. |
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| Keywords: | Diamond‐Blackfan anemia mutation RPS17 translation initiation codon |
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