Frameshift mutation in p53 regulatorRPL26is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia

“…To test this hypothesis, we retrospectively tested DNA samples from patients who enrolled in a DBA genetics research study. Prior studies from this DBA cohort have yielded the novel identification or confirmation of mutations and deletions in RP genes or GATA1 [17][18][19] in 175 of 362 samples (48%), a proportion similar to that found in other DBA registries.…”

“…Finally, the overall burden of mtDNA deletions in this cohort (8/362 patients; 2.2%) exceeds the frequency of mutations in several DBA-associated genes including RPL26, RPS7, RPS17, RPS24, and GATA1. 8,18 We propose that mtDNA deletion testing should be performed during the initial genetic evaluation of all patients with congenital anemia.…”

Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia

“…[2][3][4] Mutations in genes that encode ribosomal proteins (RP) have been identified in approximately 60-70% of DBA patients. [5][6][7][8][9][10][11][12][13] Among these genes, RPS19 is the most common DBA gene (25% of the cases). 5 All reported patients are heterozygous for the given mutation, and in most cases the mutations are predicted to result in haploinsufficiency of the respective ribosomal protein.…”

Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013

“…[4][5][6][7][8][9] A frameshift mutation in RPL26 was identified in one patient. 10 Mutations resulting in haploinsufficiency or loss-of-function in all 10 genes thus far described include missense mutations, nonsense mutations, splice mutations, insertions, deletions and rearrangements. 11,12 Recently mutations in the erythroid transcription regulator GATA1, apparently not involving any disruption in ribosome biogenesis/function, have been discovered as causative in rare cases of X-linked clinical DBA.…”