AUTHOR=Liu Shan , Pei Kunlin , Chen Lu , Wu Jing , Chen Qiuling , Zhang Jinyan , Zhang Hui , Wang Chengyi 

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

JOURNAL=Frontiers in Genetics

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1068923

DOI=10.3389/fgene.2023.1068923

ISSN=1664-8021

ABSTRACT=<p><italic>GATA1</italic> is required for normal erythropoiesis. Exonic/intronic <italic>GATA1</italic> 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 <italic>de novo GATA1</italic> c.220 + 1G&gt;C mutation. The reporter gene assay revealed that such mutations did not affect on GATA1 transcriptional activity. The normal transcription of <italic>GATA1</italic> was disturbed, as evidenced by increased expression of the shorter <italic>GATA1</italic> isoform. RDDS prediction analysis revealed that abnormal <italic>GATA1</italic> splicing might be the underlying mechanism disrupting <italic>GATA1</italic> transcription, thereby impairing erythropoiesis. Prednisone treatment significantly improved erythropoiesis, evidenced by increased hemoglobin and reticulocyte counts.</p>