Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
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DOI：
10.1038/s41439-019-0067-5
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发表时间：
2019-08
影响因子：
1.5
通讯作者：
M. Tominaga;S. Hamanoue;H. Goto;Toshiyuki Saito;J. Nagai;M. Masuno;Y. Umeda;K. Kurosawa
中科院分区：
文献类型：
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作者：
M. Tominaga;S. Hamanoue;H. Goto;Toshiyuki Saito;J. Nagai;M. Masuno;Y. Umeda;K. Kurosawa
戴蒙德-布莱克范贫血（DBA）是一种遗传性贫血，伴有多种先天畸形，核糖体蛋白基因突变已被确定为根本原因。我们描述了一名因 1p22 缺失（包含编码 60S 核糖体蛋白 L5 (RPL5) 的基因）而患有轻度 DBA 的女性患者。考虑到之前报道的病例以及我们的患者，我们认为 RPL5 单倍体不足可能导致的 DBA 形式比功能丧失突变的严重程度要轻。
Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encompassing the gene encoding 60S ribosomal protein L5 (RPL5). Considering previously reported cases together with our patient, we suggest thatRPL5haploinsufficiency might cause a less severe form of DBA than loss-of-function mutations.