| Autor: |
Charlotte M. Niemeyer, Agnieszka Grabowska, Carolyn Wong, Joerg J Meerpohl, Eva Atsidaftos, Bertil Glader, Elzbieta Latawiec, David G. Nathan, Jeffrey M. Lipton, Karen Backer, Alan H. Beggs, Edyta Niewiadomska, Lydie Da Costa, Lilia B. Merida-Long, Joachim Stahl, Karen A. Orfali, Adrianna Vlachos, Gil Tchernia, Colin A. Sieff, Gerhard Schratt, Hal E. Schneider, Sarah E. Ball, Hanna T. Gazda |
| Rok vydání: |
2006 |
| Předmět: |
|
| Zdroj: |
The American Journal of Human Genetics. 79:1110-1118 |
| ISSN: |
0002-9297 |
| DOI: |
10.1086/510020 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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