De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease.
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ABSTRACT:
SUBMITTER: Liu S
PROVIDER: S-EPMC9950261 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
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<i>De novo</i> intronic <i>GATA1</i> mutation leads to diamond-blackfan anemia like disease.
Liu Shan S Pei Kunlin K Chen Lu L Wu Jing J Chen Qiuling Q Zhang Jinyan J Zhang Hui H Wang Chengyi C
Frontiers in genetics 20230210
<i>GATA1</i> is required for normal erythropoiesis. Exonic/intronic <i>GATA1</i> 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 <i>de novo GATA1</i> c.220 + 1G>C mutation. The reporter gene assay revealed that such mutations did not affect on GATA1 transcriptional activity. The normal transcription of <i>GATA1</i> was disturbed, as evidenced by increased expression of th ...[more]
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2018-10-24 | PXD002339 | Pride