Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Department of Pediatrics, Liuzhou People's Hospital, Liuzhou, China.
Clin Genet. 2022 Dec;102(6):548-554. doi: 10.1111/cge.14218. Epub 2022 Sep 13.
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 mutation led to a shortened GATA1 protein (GATA1s), which caused a reduction in full-length functional GATA1 protein (GATA1fl). This is the first report of GATA1-related DBA patient in the East Asian population, which expanded the mutational spectrum of DBA furthering understanding of its pathogenesis.
Diamond-Blackfan 贫血症（DBA）是一种遗传性骨髓衰竭疾病，其特征为红系选择性发育不全。本文报道了一例由 GATA1 基因突变引起的 DBA 病例。先证者表现为正细胞正色素性贫血，而父母无症状。下一代测序在先证者 GATA1 起始密码子（GATA1：c.3G>A）处发现了一个新的从头突变。该突变导致 GATA1 蛋白缩短（GATA1s），从而导致全长功能性 GATA1 蛋白（GATA1fl）减少。这是东亚人群中首例 GATA1 相关 DBA 患者的报道，进一步扩展了 DBA 的突变谱，加深了对其发病机制的理解。
