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的无义变异会导致不同的先天性异常。 （注：原文“Nonsense variants of ”后面缺少具体内容，翻译只能做到这一步，需补充完整信息才能准确翻译）

Nonsense variants of result in distinct congenital anomalies.

作者信息

Aoi Hiromi, Lei Ming, Mizuguchi Takeshi, Nishioka Nobuko, Goto Tomohide, Miyama Sahoko, Suzuki Toshifumi, Iwama Kazuhiro, Uchiyama Yuri, Mitsuhashi Satomi, Itakura Atsuo, Takeda Satoru, Matsumoto Naomichi

机构信息

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.

出版信息

Hum Genome Var. 2020 Sep 18;7:26. doi: 10.1038/s41439-020-00114-w. eCollection 2020.

DOI:10.1038/s41439-020-00114-w
PMID:33014403
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7501222/
Abstract

Herein, we report two female cases with novel nonsense mutations of at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases.

摘要

在此，我们报告了两例女性病例，她们在Xq25处存在新的无义突变，该区域编码粘连复合体的一个组成部分——基质抗原2。外显子组分析在病例1（一名患有多种先天性异常的胎儿）中鉴定出c.3097 C>T，p.(Arg1033*)，在病例2（一名患有脑白质发育不全和腭裂的7岁女孩）中鉴定出c.2229 G>A，p.(Trp743*)。两例病例的X染色体失活均高度偏斜。

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Nonsense variants of result in distinct congenital anomalies.的无义变异会导致不同的先天性异常。 （注：原文“Nonsense variants of ”后面缺少具体内容，翻译只能做到这一步，需补充完整信息才能准确翻译）
Hum Genome Var. 2020 Sep 18;7:26. doi: 10.1038/s41439-020-00114-w. eCollection 2020.
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Cohesin complex-associated holoprosencephaly.黏连蛋白复合物相关的前脑无裂畸形。
Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210.
2
A requirement for STAG2 in replication fork progression creates a targetable synthetic lethality in cohesin-mutant cancers.STAG2 在复制叉推进中的需求在黏连蛋白突变型癌症中产生了可靶向的合成致死性。
Nat Commun. 2019 Apr 11;10(1):1686. doi: 10.1038/s41467-019-09659-z.
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The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.癫痫遗传学计划：对诊断外显子组的系统重新分析提高了产量。
利用 DECIPHER 数据识别先天性膈疝加（CDH+）的表型扩展。
Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29.
4
Non-Invasive Detection of a De Novo Frameshift Variant of in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.女性胎儿中一种新发移码变异的无创检测：逃逸基因影响女性X连锁疾病的表现
J Clin Med. 2022 Jul 19;11(14):4182. doi: 10.3390/jcm11144182.
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Prioritization of putatively detrimental variants in euploid miscarriages.对整倍体流产中潜在有害变异的优先级排序。
Sci Rep. 2022 Feb 7;12(1):1997. doi: 10.1038/s41598-022-05737-3.
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Underlying genetic etiologies of congenital diaphragmatic hernia.先天性膈疝的潜在遗传病因。
Prenat Diagn. 2022 Mar;42(3):373-386. doi: 10.1002/pd.6099. Epub 2022 Jan 22.
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Epilepsia. 2019 May;60(5):797-806. doi: 10.1111/epi.14698. Epub 2019 Apr 5.
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