De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease.

is required for normal erythropoiesis. Exonic/intronic mutations causes Diamond-Blackfan Anemia (DBA)-like disease. Herein, we present a case of a 5-year-old boy with anemia of unknown etiology. Whole-exome sequencing revealed a c.220 + 1G>C mutation. The reporter gene assay revealed that such mutations did not affect on GATA1 transcriptional activity. The normal transcription of was disturbed, as evidenced by increased expression of the shorter isoform. RDDS prediction analysis revealed that abnormal splicing might be the underlying mechanism disrupting transcription, thereby impairing erythropoiesis. Prednisone treatment significantly improved erythropoiesis, evidenced by increased hemoglobin and reticulocyte counts.