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Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia |
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| Authors: | Gazda Hanna T Grabowska Agnieszka Merida-Long Lilia B Latawiec Elzbieta Schneider Hal E Lipton Jeffrey M Vlachos Adrianna Atsidaftos Eva Ball Sarah E Orfali Karen A Niewiadomska Edyta Da Costa Lydie Tchernia Gil Niemeyer Charlotte Meerpohl Joerg J Stahl Joachim Schratt Gerhard Glader Bertil Backer Karen Wong Carolyn Nathan David G Beggs Alan H Sieff Colin A |
| Affiliation: | Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA. hanna.gazda@childrens.harvard.edu |
| 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. |
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