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

  title={Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.},
  author={Hanna T. Gazda and Agnieszka Grabowska and Lilia B Merida-Long and Elzbieta Latawiec and Hal E Schneider and Jeffrey M Lipton and Adrianna Vlachos and Eva Atsidaftos and Sarah E. Ball and Karen A Orfali and Edyta Niewiadomska and Lydie Da Costa and Gil Tchernia and Charlotte Niemeyer and Joerg J Meerpohl and Joachim Stahl and Gerhard Schratt and Bertil E. Glader and Karen Backer and Carolyn Wong and David G. Nathan and Alan H. Beggs and Colin A. Sieff},
  journal={American journal of human genetics},
  volume={79 6},
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… CONTINUE READING

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