Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2812451 | The American Journal of Human Genetics | 2006 | 9 Pages |
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 ∼25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in ∼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.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Genetics
Authors
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,