Article
Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1.
Clinical genetics - 1 Dec 2022
Chen Tongtong, Zhang Qianqian, Shang Xuan, Zou Shaomin, Qin Jiaofeng, Li Kui, Lin Bin, Tao Zhenzhong, Long Xingjiang, Xu Xiangmin
Abstract excerpt
Diamond-Blackfan anaemia (DBA) is an inherited marrow failure disorder characterised by selective erythroid aplasia. Herein, we reported a case of DBA caused by a novel GATA1 gene mutation. The proband manifested normocytic normochromic anaemia, while the parents were asymptomatic. Next-generation sequencing identified a novel de novo mutation at GATA1 initiation codon (GATA1:c.3G>A) in the proband. The...
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