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MN1 gene loss-of-function mutation causes cleft palate in a pedigree.

作者信息

Shu Li, He Dinghua, Wu Dan, Peng Ying, Xi Hui, Mao Xiao, Wang Hua

机构信息

Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China.

National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.

出版信息

Brain. 2021 Mar 3;144(2):e18. doi: 10.1093/brain/awaa431.

DOI:10.1093/brain/awaa431
PMID:33351070
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7940500/
Abstract
摘要

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1
MN1 gene loss-of-function mutation causes cleft palate in a pedigree.MN1基因功能丧失突变在一个家系中导致腭裂。
Brain. 2021 Mar 3;144(2):e18. doi: 10.1093/brain/awaa431.
2
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Brain. 2021 Mar 3;144(2):e19. doi: 10.1093/brain/awaa432.
3
Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.两个家庭中涉及MN1基因的22q12.1微缺失重叠导致的颅面异常和发育迟缓
Am J Med Genet A. 2015 May;167A(5):1047-53. doi: 10.1002/ajmg.a.36839. Epub 2015 Mar 21.
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Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.TP63基因Arg227突变的表型分析，重点关注EEC综合征中的牙齿表型和排尿困难。
Am J Med Genet A. 2011 Jan;155A(1):228-32. doi: 10.1002/ajmg.a.33768.
5
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?EEC综合征、TP63基因Arg227Gln突变与排尿困难：是否存在基因型-表型相关性？
Am J Med Genet A. 2007 May 15;143A(10):1114-9. doi: 10.1002/ajmg.a.31664.
6
A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.一个家族性的外胚层发育不良-并指（趾）畸形-唇腭裂综合征病例中存在一个新型的 H208D TP63 突变，但无唇腭裂。
Clin Exp Dermatol. 2009 Dec;34(8):e726-8. doi: 10.1111/j.1365-2230.2009.03451.x. Epub 2009 Jul 29.
7
Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.睑缘粘连-外胚层缺陷-唇裂和/或腭裂中的皮肤糜烂与伤口愈合
Arch Dermatol. 2005 Dec;141(12):1591-4. doi: 10.1001/archderm.141.12.1591.
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Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.22号染色体q12.1微缺失：MN1基因作为腭裂候选基因的确认
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Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.TP63 基因 SAM 结构域的突变与非综合征性唇腭裂和腭裂有关。
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A mutation of the p63 gene in non-syndromic cleft lip.非综合征性唇裂中p63基因的突变
J Med Genet. 2006 Jun;43(6):e28. doi: 10.1136/jmg.2005.036442.

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本文引用的文献

1
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.功能获得性 MN1 截断变异导致具有颅面和脑部异常的可识别综合征。
Am J Hum Genet. 2020 Jan 2;106(1):13-25. doi: 10.1016/j.ajhg.2019.11.011. Epub 2019 Dec 12.
2
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.MN1 C 端截短综合征是一种具有部分脑-面联合异常的新型神经发育和颅面疾病。
Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379.
3
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.
MEI4 中的双等位基因突变导致着床前胚胎停滞和女性不孕。
Hum Genet. 2024 Oct;143(9-10):1049-1060. doi: 10.1007/s00439-023-02633-2. Epub 2024 Jan 22.
4
Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the Gene.神经发育疾病——由该基因中的一种新型移码变异导致的非典型表型
Front Mol Neurosci. 2021 Dec 16;14:789778. doi: 10.3389/fnmol.2021.789778. eCollection 2021.
22号染色体q12.1微缺失：MN1基因作为腭裂候选基因的确认
Eur J Hum Genet. 2016 Jan;24(1):51-8. doi: 10.1038/ejhg.2015.65. Epub 2015 May 6.
4
Cell fate decisions in malignant hematopoiesis: leukemia phenotype is determined by distinct functional domains of the MN1 oncogene.恶性造血中的细胞命运决定：白血病表型由MN1癌基因的不同功能域决定。
PLoS One. 2014 Nov 17;9(11):e112671. doi: 10.1371/journal.pone.0112671. eCollection 2014.
5
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.患儿患有 Pierre-Robin 序列征（包括腭裂）和神经纤维瘤病 2 型（NF2），存在 22q12.2 微缺失，该缺失区域包含面部发育相关基因 MN1（脑膜瘤 1）：病例报告及文献复习。
BMC Med Genet. 2012 Mar 22;13:19. doi: 10.1186/1471-2350-13-19.
6
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.经 array CGH 检测，发现 Toriello-Carey 综合征患者存在 22q12 处 6Mb 的染色体片段缺失。
Am J Med Genet A. 2011 Jun;155A(6):1390-2. doi: 10.1002/ajmg.a.33961. Epub 2011 May 12.
7
The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.Mn1转录因子在Tbx22的上游起作用，优先调节小鼠腭后部的生长。
Development. 2008 Dec;135(23):3959-68. doi: 10.1242/dev.025304. Epub 2008 Oct 23.
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Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.Mn1癌基因的靶向破坏导致颅骨骼膜性骨发育的严重缺陷。
Mol Cell Biol. 2005 May;25(10):4229-36. doi: 10.1128/MCB.25.10.4229-4236.2005.
9
Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.
Oncogene. 1995 Apr 20;10(8):1521-8.
10
Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.骨髓增殖性疾病中的（12；22）（p13；q11）易位导致位于12p13的ETS样TEL基因与位于22q11的MN1基因融合。
Oncogene. 1995 Apr 20;10(8):1511-9.