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Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

作者信息

Sarkar Arindam, Emrick Lisa T, Smith Eboni M, Austin Elise G, Yang Yaping, Hunter Jill V, Scaglia Fernando, Lalani Seema R

机构信息

Department of Medicine, Baylor College of Medicine, Houston, Texas.

出版信息

Am J Med Genet A. 2015 Apr;167A(4):914-8. doi: 10.1002/ajmg.a.36948. Epub 2015 Mar 3.

DOI:10.1002/ajmg.a.36948
PMID:25735261
Abstract
摘要

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1
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.通过外显子组测序在伴有小头畸形的下颌面骨发育不全综合征中检测到的EFTUD2基因新的从头突变。
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2
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5
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.EFTUD2基因中的一个新生同义变异破坏正常剪接并导致小头畸形的下颌面部发育不全：病例报告
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Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.阵列比较基因组杂交是一种用于诊断与EFTUD2相关的先天性小下颌颜面发育不全伴小头畸形的有效的一线诊断检测方法。
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引用本文的文献

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Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review).剪接体蛋白EFTUD2：肿瘤发生和某些发育缺陷中的潜在致病因素（综述）
Mol Med Rep. 2025 May;31(5). doi: 10.3892/mmr.2025.13499. Epub 2025 Mar 21.
2
A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.全外显子测序在伴有小头畸形的颌面部发育不全症中发现 EFTUD2 的新型从头错义突变。
J Clin Lab Anal. 2022 May;36(5):e24440. doi: 10.1002/jcla.24440. Epub 2022 Apr 18.
3
[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].
[下颌面骨发育不全伴小头畸形综合征的临床病例分析及文献复习]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Jan;36(1):36-40. doi: 10.13201/j.issn.2096-7993.2022.01.008.
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Hum Mol Genet. 2021 May 28;30(9):739-757. doi: 10.1093/hmg/ddab051.
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The Role of the U5 snRNP in Genetic Disorders and Cancer.U5 小核核糖核蛋白在遗传疾病和癌症中的作用。
Front Genet. 2021 Jan 28;12:636620. doi: 10.3389/fgene.2021.636620. eCollection 2021.
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Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.下颌面骨发育不全伴小头畸形：通过父母调查扩大表型。
Am J Med Genet A. 2021 Feb;185(2):413-423. doi: 10.1002/ajmg.a.61977. Epub 2020 Nov 27.
7
Novel Splice Site Pathogenic Variant of Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea.新型剪接位点致病变异与韩国小头畸形及颅外症状的下颌面骨发育不全相关。
Diagnostics (Basel). 2020 May 12;10(5):296. doi: 10.3390/diagnostics10050296.
8
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.核心前体 mRNA 剪接因子杂合不足的疾病建模。
Hum Mol Genet. 2019 Nov 15;28(22):3704-3723. doi: 10.1093/hmg/ddz169.
9
Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.Eftud2 基因（MFDM 病致病基因）功能丧失突变导致小鼠胚胎着床前阻滞。
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.伴有小头畸形的下颌面骨发育不全：突变与数据库更新
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