In this case, the ZRSR2 mutation was the likely implicating factor for severe transfusion-dependent anemia in a child with DS. The clinical implication of a ZRSR2 mutation in a child with DS has not been previously described and warrants close surveillance to detect potential insidious ...
Mutation Myelodysplastic syndrome RNA splicing This article is cited by RIP-PEN-seq identifies a class of kink-turn RNAs as splicing regulators Bin Li Shurong Liu Jianhua Yang Nature Biotechnology(2024) Characteristics of patients with myelodysplastic neoplasm and spliceosome mutations ...
spliceosomal mutationZRSR2Here we report a case of refractory macrocytic anemia with a spliceosomal point mutation involving the ZRSR2 gene in a child with Down syndrome (DS). Such mutations have been shown to cause refractory macrocytic anemia and myelodysplastic syndrome (MDS) in elderly ...
We also sequenced RNA from four MDS cases without mutation in either ZRSR2 or other commonly mutated splice factors (U2AF1, SF3B1 and SRSF2; termed 'ZRSR2 WT MDS'). In addition, three non-malignant bone marrows and one remission bone marrow (remission of sample 7; ZRSR2 mutant MDS; ...
Thus, ZRSR2 mutations are approximately 10-fold more prevalent among BPDCNs as compared to MDS or AML, indicating a unique association between BDPCN and ZRSR2 mutation. BPDCN is predominantly a disease of the male sex, both in previous studies and in our cohort (28 males among 36 patients,...