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Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

American journal of human genetics (2006-12-23)
Hanna T Gazda, Agnieszka Grabowska, Lilia B Merida-Long, Elzbieta Latawiec, Hal E Schneider, Jeffrey M Lipton, Adrianna Vlachos, Eva Atsidaftos, Sarah E Ball, Karen A Orfali, Edyta Niewiadomska, Lydie Da Costa, Gil Tchernia, Charlotte Niemeyer, Joerg J Meerpohl, Joachim Stahl, Gerhard Schratt, Bertil Glader, Karen Backer, Carolyn Wong, David G Nathan, Alan H Beggs, Colin A Sieff
PMID17186470
ABSTRACT

Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.