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

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 a...

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Autores principales: Liu, Shan, Pei, Kunlin, Chen, Lu, Wu, Jing, Chen, Qiuling, Zhang, Jinyan, Zhang, Hui, Wang, Chengyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950261/
https://www.ncbi.nlm.nih.gov/pubmed/36845397
http://dx.doi.org/10.3389/fgene.2023.1068923
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author Liu, Shan
Pei, Kunlin
Chen, Lu
Wu, Jing
Chen, Qiuling
Zhang, Jinyan
Zhang, Hui
Wang, Chengyi
author_facet Liu, Shan
Pei, Kunlin
Chen, Lu
Wu, Jing
Chen, Qiuling
Zhang, Jinyan
Zhang, Hui
Wang, Chengyi
author_sort Liu, Shan
collection PubMed
description 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.
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spelling pubmed-99502612023-02-25 De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease Liu, Shan Pei, Kunlin Chen, Lu Wu, Jing Chen, Qiuling Zhang, Jinyan Zhang, Hui Wang, Chengyi Front Genet Genetics 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. Frontiers Media S.A. 2023-02-10 /pmc/articles/PMC9950261/ /pubmed/36845397 http://dx.doi.org/10.3389/fgene.2023.1068923 Text en Copyright © 2023 Liu, Pei, Chen, Wu, Chen, Zhang, Zhang and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Liu, Shan
Pei, Kunlin
Chen, Lu
Wu, Jing
Chen, Qiuling
Zhang, Jinyan
Zhang, Hui
Wang, Chengyi
De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
title De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
title_full De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
title_fullStr De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
title_full_unstemmed De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
title_short De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
title_sort de novo intronic gata1 mutation leads to diamond-blackfan anemia like disease
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950261/
https://www.ncbi.nlm.nih.gov/pubmed/36845397
http://dx.doi.org/10.3389/fgene.2023.1068923
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