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GPSM2 mutations in Chudley-McCullough syndrome.Chudley-McCullough综合征中的GPSM2突变。
Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14.
2
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.GPSM2 和 Chudley-McCullough 综合征：一种源自荷兰的北美的创始变异体。
Am J Med Genet A. 2013 May;161A(5):973-6. doi: 10.1002/ajmg.a.35808. Epub 2013 Mar 13.
3
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.也门一个家庭中导致Chudley-McCullough综合征的一种新的GPSM2无义突变。
Eur J Med Genet. 2016 Jun;59(6-7):337-41. doi: 10.1016/j.ejmg.2016.05.006. Epub 2016 May 11.
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GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.GPSM2 突变导致 Chudley-McCullough 综合征的脑畸形和听力损失。
Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10.
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Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation.Chudley-McCullough综合征：携带新型GPSM2突变的双胞胎的可变临床表现
Neuropediatrics. 2016 Jun;47(3):197-201. doi: 10.1055/s-0036-1579785. Epub 2016 Apr 11.
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Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.Chudley-McCullough 综合征：一种以耳聋和典型脑畸形为特征的可识别临床实体。
J Child Neurol. 2021 Feb;36(2):152-158. doi: 10.1177/0883073820960314. Epub 2020 Oct 4.
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Defective Gpsm2/Gα signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.GPSM2/Gα 信号缺陷破坏 Chudley-McCullough 综合征中的静纤毛发育和生长锥肌动蛋白动态。
Nat Commun. 2017 Apr 7;8:14907. doi: 10.1038/ncomms14907.
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Prenatal diagnosis of Chudley-McCullough syndrome.Chudley-McCullough综合征的产前诊断。
Am J Med Genet A. 2016 Sep;170(9):2426-30. doi: 10.1002/ajmg.a.37806. Epub 2016 Jun 17.
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Chudley-McCullough syndrome: another report and a brief review of the literature.Chudley-McCullough综合征：另一例报告及文献简要综述
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Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.患有Chudley-McCullough综合征的兄弟：感音神经性耳聋、胼胝体发育不全及其他脑部结构异常。
Am J Med Genet A. 2004 Jan 1;124A(1):74-8. doi: 10.1002/ajmg.a.20380.

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Autophagy-related protein Atg11 is essential for microtubule-mediated chromosome segregation.自噬相关蛋白Atg11对于微管介导的染色体分离至关重要。
PLoS Biol. 2025 Apr 2;23(4):e3003069. doi: 10.1371/journal.pbio.3003069. eCollection 2025 Apr.
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Spindle positioning and its impact on vertebrate tissue architecture and cell fate.纺锤体定位及其对脊椎动物组织架构和细胞命运的影响。
Nat Rev Mol Cell Biol. 2021 Oct;22(10):691-708. doi: 10.1038/s41580-021-00384-4. Epub 2021 Jun 22.
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Development of the cochlea.耳蜗的发育。
Development. 2020 Jun 22;147(12):dev162263. doi: 10.1242/dev.162263.
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Localization of GPSM2 in the Nucleus of Invasive Breast Cancer Cells Indicates a Poor Prognosis.GPSM2在浸润性乳腺癌细胞核中的定位提示预后不良。
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G-protein-signaling modulator 2 expression and role in a CD133 pancreatic cancer stem cell subset.G蛋白信号调节剂2在CD133阳性胰腺癌干细胞亚群中的表达及作用
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Genetic Hearing Loss and Gene Therapy.遗传性听力损失与基因治疗
Genomics Inform. 2018 Dec;16(4):e20. doi: 10.5808/GI.2018.16.4.e20. Epub 2018 Dec 28.
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Chudley-McCullough Syndrome.楚德利-麦卡洛综合征
J Clin Imaging Sci. 2018 Nov 15;8:45. doi: 10.4103/jcis.JCIS_39_18. eCollection 2018.
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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.遗传听力损失 ACMG/AMP 变异解读指南的专家规范
Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.
9
Prenatal diagnosis of Chudley-McCullough syndrome.Chudley-McCullough综合征的产前诊断。
Am J Med Genet A. 2016 Sep;170(9):2426-30. doi: 10.1002/ajmg.a.37806. Epub 2016 Jun 17.
10
The GPSM2/LGN GoLoco motifs are essential for hearing.GPSM2/LGN的GoLoco模体对听力至关重要。
Mamm Genome. 2016 Feb;27(1-2):29-46. doi: 10.1007/s00335-015-9614-7. Epub 2015 Dec 11.

本文引用的文献

1
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.GPSM2 突变导致 Chudley-McCullough 综合征的脑畸形和听力损失。
Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10.
2
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.GPSM2 中的截断突变与隐性非综合征性听力损失有关。
Clin Genet. 2012 Mar;81(3):289-93. doi: 10.1111/j.1399-0004.2011.01654.x. Epub 2011 Mar 15.
3
Chudley-McCullough syndrome: another report and a brief review of the literature.Chudley-McCullough综合征：另一例报告及文献简要综述
Clin Dysmorphol. 2011 Apr;20(2):107-110. doi: 10.1097/MCD.0b013e328341d007.
4
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.全外显子测序和纯合子作图确定细胞极性蛋白 GPSM2 中的突变是常染色体隐性遗传性耳聋 DFNB82 的致病原因。
Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.
5
Direct binding of Lgl2 to LGN during mitosis and its requirement for normal cell division.有丝分裂期间Lgl2与LGN的直接结合及其对正常细胞分裂的需求。
J Biol Chem. 2005 Feb 25;280(8):6761-5. doi: 10.1074/jbc.C400440200. Epub 2005 Jan 4.
6
Chudley-McCullough syndrome: expanded phenotype and review of the literature.
Am J Med Genet A. 2003 May 15;119A(1):71-6. doi: 10.1002/ajmg.a.10180.
7
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.同胞中因Monro孔阻塞导致的双侧感音神经性耳聋和脑积水：一种新描述的常染色体隐性疾病。
Am J Med Genet. 1997 Jan 31;68(3):350-6. doi: 10.1002/(sici)1096-8628(19970131)68:3<350::aid-ajmg19>3.0.co;2-s.

GPSM2 mutations in Chudley-McCullough syndrome.

作者信息

Diaz-Horta Oscar, Sirmaci Asli, Doherty Dan, Nance Walter, Arnos Kathleen, Pandya Arti, Tekin Mustafa

机构信息

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

出版信息

Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14.

DOI:10.1002/ajmg.a.35636
PMID:22987632
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3657751/
Abstract
摘要