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前脑无裂畸形的中间脑间变异型：ZIC2错义突变的首例产前报告。

Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.

作者信息

Gounongbé Caroline, Marangoni Martina, Gouder de Beauregard Vanessa, Delaunoy Mélanie, Jissendi Patrice, Cassart Marie, Désir Julie

机构信息

Department of Fetal Medicine CHU Saint-Pierre Brussels Belgium.

Center of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium.

出版信息

Clin Case Rep. 2020 Apr 30;8(7):1287-1292. doi: 10.1002/ccr3.2896. eCollection 2020 Jul.

DOI:10.1002/ccr3.2896
PMID:32695376
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7364085/
Abstract

We present a case of a middle interhemispheric variant of antenatal discovery associated with a de novo missense variant (NM_007129.5: c.1109G>A p.(Cys370Tyr)) in the ZIC2 gene. Our case represents the first prenatal description of a ZIC2 missense mutation found in association with syntelencephaly.

摘要

我们报告了一例产前发现的中脑间变异病例，该病例与ZIC2基因中的一个新发错义变异（NM_007129.5:c.1109G>A p.(Cys370Tyr)）相关。我们的病例代表了首次在产前描述与并脑畸形相关的ZIC2错义突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2a5/7364085/abbf54d57931/CCR3-8-1287-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2a5/7364085/7eb92448a7d0/CCR3-8-1287-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2a5/7364085/abbf54d57931/CCR3-8-1287-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2a5/7364085/7eb92448a7d0/CCR3-8-1287-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2a5/7364085/abbf54d57931/CCR3-8-1287-g002.jpg

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1
Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.前脑无裂畸形的中间脑间变异型：ZIC2错义突变的首例产前报告。
Clin Case Rep. 2020 Apr 30;8(7):1287-1292. doi: 10.1002/ccr3.2896. eCollection 2020 Jul.
2
ZIC2 in Holoprosencephaly.ZIC2 与前脑无裂畸形。
Adv Exp Med Biol. 2018;1046:269-299. doi: 10.1007/978-981-10-7311-3_14.
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本文引用的文献

1
ZIC2 in Holoprosencephaly.ZIC2 与前脑无裂畸形。
Adv Exp Med Biol. 2018;1046:269-299. doi: 10.1007/978-981-10-7311-3_14.
2
Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects.在蛋白质水平对外显子变异进行多层次生物学特征分析，可显著提高对其有害效应的识别能力。
Bioinformatics. 2016 Jun 15;32(12):1797-804. doi: 10.1093/bioinformatics/btw094. Epub 2016 Feb 18.
3
The middle interhemispheric variant of holoprosencephaly: magnetic resonance and diffusion tensor imaging findings.
全前脑畸形的中间脑间叶变体：磁共振成像和扩散张量成像结果
Br J Radiol. 2016 Jul;89(1063):20160115. doi: 10.1259/bjr.20160115. Epub 2016 Apr 19.
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Monozygotic twins with de novo gene mutations discordant for the type of holoprosencephaly.具有全前脑畸形类型不一致的新发基因突变的同卵双胞胎。
Neurology. 2016 Apr 12;86(15):1456-1458. doi: 10.1212/WNL.0000000000002567. Epub 2016 Mar 9.
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Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.全外显子组测序揭示的前脑无裂畸形复杂遗传模式
Clin Genet. 2016 Jun;89(6):659-68. doi: 10.1111/cge.12722. Epub 2016 Feb 16.
6
Middle Interhemispheric Variant of Holoprosencephaly - Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus.前脑无裂畸形的中间半球变异型——表现为19周胎儿透明隔腔未显示及半球间囊肿
J Clin Diagn Res. 2015 Sep;9(9):QD11-3. doi: 10.7860/JCDR/2015/14076.6525. Epub 2015 Sep 1.
7
[Middle interhemispheric variant of holoprosencephaly and partial 21q monosomy].[全前脑畸形的中间脑间变异型与部分21号染色体q臂单体性]
Gynecol Obstet Fertil. 2015 Apr;43(4):326-7. doi: 10.1016/j.gyobfe.2015.02.009. Epub 2015 Mar 21.
8
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.利用 SHH、ZIC2、SIX3 和 TGIF 的前瞻性序列分析，描述在无脑畸形先证者中观察到的突变基因×基因相互作用频率受限的参数。
Mol Genet Metab. 2012 Apr;105(4):658-64. doi: 10.1016/j.ymgme.2012.01.005. Epub 2012 Jan 12.
9
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.新发现：大型欧洲无脑回畸形病例系列中的表型-基因型相关性。
J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22.
10
Syntelencephaly: postnatal sonographic detection of a subtle case.全前脑畸形：产后超声对一例细微病例的检测
Pediatr Radiol. 2010 Dec;40 Suppl 1:S160. doi: 10.1007/s00247-010-1733-4. Epub 2010 Jun 4.