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

Shan Liu; Kunlin Pei; Kunlin Pei; Lu Chen; Jing Wu; Qiuling Chen; Jinyan Zhang; Jinyan Zhang; Hui Zhang; Hui Zhang; Chengyi Wang

doi:10.3389/fgene.2023.1068923

Frontiers in Genetics (Feb 2023)

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

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

Affiliations

Shan Liu: Department of Hematology & Oncology, Fujian Children’s Hospital, Fujian Branch of Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Fuzhou, China
Kunlin Pei: Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Kunlin Pei: Department of Hematology/Oncology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
Lu Chen: Department of Hematology & Oncology, Fujian Children’s Hospital, Fujian Branch of Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Fuzhou, China
Jing Wu: Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Qiuling Chen: Department of Hematology & Oncology, Fujian Children’s Hospital, Fujian Branch of Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Fuzhou, China
Jinyan Zhang: Department of Hematology & Oncology, Fujian Children’s Hospital, Fujian Branch of Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Fuzhou, China
Jinyan Zhang: Fujian Medical University, Fuzhou, China
Hui Zhang: Department of Hematology & Oncology, Fujian Children’s Hospital, Fujian Branch of Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Fuzhou, China
Hui Zhang: Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Chengyi Wang: Department of Hematology & Oncology, Fujian Children’s Hospital, Fujian Branch of Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Fuzhou, China

DOI: https://doi.org/10.3389/fgene.2023.1068923
Journal volume & issue: Vol. 14

Abstract

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

Published in Frontiers in Genetics

ISSN: 1664-8021 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Science: Biology (General): Genetics
Website: http://journal.frontiersin.org/journal/genetics

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