Bertil Glader

Publication Details

  • Ribosomal protein S24 gene is mutated in diamond-blackfan anemia AMERICAN JOURNAL OF HUMAN GENETICS Gazda, H. T., Grabowska, A., Merida-Long, L. B., Latawiec, E., Schneider, H. E., Lipton, J. M., Vlachos, A., Atsidaftos, E., Ball, S. E., Orfali, K. A., Niewiadomska, E., Da Costa, L., Tchernia, G., Niemeyer, C., Meerpohl, J. J., Stahl, J., Schratt, G., Glader, B., Backer, K., Wong, C., Nathan, D. G., Beggs, A. H., Sieff, C. A. 2006; 79 (6): 1110-1118


    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.

    View details for Web of Science ID 000242131600013

    View details for PubMedID 17186470

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