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Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' .

作者信息

van der Veken Lars T, Maiburg Merel C, Groenendaal Floris, van Gijn Mariëlle E, Bloem Andries C, Erpelinck Claudia, Gröschel Stefan, Sanders Mathijs A, Delwel Ruud, Bierings Marc B, Buijs Arjan

机构信息

Department of Genetics, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands.

Department of Neonatology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands.

出版信息

Haematologica. 2018 Apr;103(4):e173-e176. doi: 10.3324/haematol.2017.185033. Epub 2018 Feb 8.

DOI:10.3324/haematol.2017.185033
PMID:29439187
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5865425/
Abstract
摘要

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Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' .由于3'端的遗传性缺失导致的致死性新生儿骨髓衰竭综合征，伴有包括肢体缺陷在内的多种先天性异常。
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A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia.一个患有桡尺骨融合伴巨核细胞减少性血小板减少症的中国男孩中 MECOM 基因的新型错义突变。
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本文引用的文献

1
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.一组遗传性骨髓衰竭患者的种系突变景观。
Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16.
2
and complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.以及复杂基因座（MECOM）：遗传性血液系统恶性肿瘤的一个新候选基因。
Haematologica. 2018 Feb;103(2):e55-e58. doi: 10.3324/haematol.2017.178723. Epub 2017 Nov 2.
3
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.编码癌蛋白EVI1的MECOM基因突变导致桡尺骨融合伴无巨核细胞性血小板减少症。
Am J Hum Genet. 2015 Dec 3;97(6):848-54. doi: 10.1016/j.ajhg.2015.10.010. Epub 2015 Nov 12.
4
Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.一名患有3q26.2q26.31间质性微缺失的新生儿的先天性血小板减少症。
Am J Med Genet A. 2016 Feb;170A(2):504-509. doi: 10.1002/ajmg.a.37451. Epub 2015 Nov 10.
5
A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia.单一癌基因增强子重排导致白血病中 EVI1 和 GATA2 的同时失调。
Cell. 2014 Apr 10;157(2):369-381. doi: 10.1016/j.cell.2014.02.019. Epub 2014 Apr 3.
6
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia.3q26 区缺失包括 EVI1 和 MDS1 基因的新生儿先天性血小板减少症和随后的再生障碍性贫血。
J Med Genet. 2012 Sep;49(9):598-600. doi: 10.1136/jmedgenet-2012-100990.
7
Evi-1 is a critical regulator for hematopoietic stem cells and transformed leukemic cells.Evi-1是造血干细胞和转化白血病细胞的关键调节因子。
Cell Stem Cell. 2008 Aug 7;3(2):207-20. doi: 10.1016/j.stem.2008.06.002.
8
Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media.骏波小鼠Evi1基因座的突变导致对中耳炎易感。
PLoS Genet. 2006 Oct 6;2(10):e149. doi: 10.1371/journal.pgen.0020149.
9
Oligomerization of Evi-1 regulated by the PR domain contributes to recruitment of corepressor CtBP.由PR结构域调控的Evi-1寡聚化有助于共抑制因子CtBP的募集。
Oncogene. 2005 Sep 8;24(40):6165-73. doi: 10.1038/sj.onc.1208754.
10
The Evi1 proto-oncogene is required at midgestation for neural, heart, and paraxial mesenchyme development.原癌基因Evi1在妊娠中期对神经、心脏和轴旁间充质发育是必需的。
Mech Dev. 1997 Jul;65(1-2):55-70. doi: 10.1016/s0925-4773(97)00057-9.