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.
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 .
In which syndrome is the RPS19 gene most frequently mutated?
In which syndrome is the RPS19 gene most frequently mutated ?
Diamond-Blackfan Anemia DBA
Diamond-Blackfan Anemia DBA