CDAII presenting as hydrops foetalis: Molecular characterization of two cases
CDAII presenting as hydrops foetalis: Molecular characterization of two cases
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DOI：
10.1016/j.bcmd.2010.03.005
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发表时间：
2010-06-15
影响因子：
2.3
通讯作者：
Zanella, Alberto
中科院分区：
文献类型：
--
作者：
Fermo, Elisa;Bianchi, Paola;Zanella, Alberto
我们报告了两例非常严重的先天性促红细胞增生性贫血患者，表现为胎儿水肿，以前被归类为“非典型”cda，因为他们表现出cdai样红细胞形态特征，缺乏其他诊断性cdai标记物。SEC23B基因最近被描述为CDAII的致病基因，其分子特征显示分别存在Glu109Lys/Arg701Cys和Glu109Lys/Cys66Tyr突变。这一发现导致了对这些病例的重新分类，并强调了CDAII的表型异质性，首次证明了CDAII可能与水肿胎儿和宫内死亡有关。(C) 2010爱思唯尔公司版权所有。
We report two patients with very severe congenital dyserythropoietic anemia presenting with hydrops foetalis, previously classified as "atypical" CDAs since they presented CDAII-like erythroblastic morphological features lacking other diagnostic CDAII markers. Molecular characterization of SEC23B gene, recently described as responsible of CDAII, revealed the presence of Glu109Lys/Arg701Cys and Glu109Lys/Cys66Tyr mutations, respectively. This finding leads to a re-classification of these cases and underlines phenotypic heterogeneity of CDAII, demonstrating for the first time that CDAII may be associated with hydrops foetalis and intrauterine death. (C) 2010 Elsevier Inc. All rights reserved.