Congenital dyserythropoietic anemias: molecular insights and diagnostic approach
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach
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DOI：
10.1182/blood-2013-05-468223
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发表时间：
2013-09-26
期刊：
影响因子：
20.3
通讯作者：
Tamary, Hannah
中科院分区：
文献类型：
--
作者：
Iolascon, Achille;Heimpel, Hermann;Tamary, Hannah
先天性红细胞生成不良性贫血（CDAs）是一种以骨髓成红细胞形态异常为特征的遗传性疾病。随着最近对CDA III基因（KIF23）的鉴定，在主要CDA亚组（I-CDAN 1和II-SEC 23 B）中突变的基因的揭示现已完成。KIF23编码有丝分裂驱动蛋白样蛋白1，其在胞质分裂中起关键作用，而CDAN1和SEC23B编码的蛋白的细胞作用仍然未知。最近已经鉴定了红系转录因子基因（KLF 1和加塔-1）中具有突变的CDA变体。CDA的分子诊断现在在大多数患者中是可能的。
The congenital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morphologic abnormalities of marrow erythroblasts. The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23). KIF23 encodes mitotic kinesin-like protein 1, which plays a critical role in cytokinesis, whereas the cellular role of the proteins encoded by CDAN1 and SEC23B is still unknown. CDA variants with mutations in erythroid transcription factor genes (KLF1 and GATA-1) have been recently identified. Molecular diagnosis of CDA is now possible in most patients.