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A novel initiation codon mutation in the ribosomal protein S17 gene ( RPS17 ) in a patient with Diamond‐Blackfan anemia
Author(s) -
Song MinJung,
Yoo EunHyung,
Lee KiO,
Kim GeeNa,
Kim HeeJin,
Kim SunYoung,
Kim SunHee
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22316
Subject(s) - diamond–blackfan anemia , mutation , medicine , bone marrow failure , genetics , gene , anemia , translation (biology) , cancer research , ribosome , biology , messenger rna , stem cell , rna , haematopoiesis
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.