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