CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.
作者信息
Miyake Noriko, Andrews Caroline, Fan Wen, He Wei, Chan Wai-Man, Engle Elizabeth C
机构信息
Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA.
出版信息
Am J Med Genet A. 2010 Jan;152A(1):215-7. doi: 10.1002/ajmg.a.33168.
Abstract
摘要
相似文献
1
CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.CHN1基因突变并非散发性杜安眼球后退综合征的常见病因。
Am J Med Genet A. 2010 Jan;152A(1):215-7. doi: 10.1002/ajmg.a.33168.
2
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.分析患有各种先天性眼球运动障碍的患者的 CHN1 基因。
Graefes Arch Clin Exp Ophthalmol. 2010 Sep;248(9):1351-7. doi: 10.1007/s00417-010-1417-7. Epub 2010 Jun 10.
3
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.人类CHN1突变会过度激活α2-嵌合蛋白并导致杜安眼球后退综合征。
Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24.
4
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.CHN1 和 Duane 退缩综合征：表型扩展至颅神经发育疾病。
Eur J Med Genet. 2021 Apr;64(4):104188. doi: 10.1016/j.ejmg.2021.104188. Epub 2021 Mar 2.
5
CHN1 gene mutation analysis in patients with Duane retraction syndrome.杜安眼球后退综合征患者的CHN1基因突变分析
J AAPOS. 2017 Dec;21(6):472-475.e2. doi: 10.1016/j.jaapos.2017.07.208. Epub 2017 Oct 13.
6
Two novel CHN1 mutations in 2 families with Duane retraction syndrome.两个患有杜安眼球后退综合征的家族中发现两种新的CHN1突变。
Arch Ophthalmol. 2011 May;129(5):649-52. doi: 10.1001/archophthalmol.2011.84.
7
Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI.两名双侧第四和第六颅神经缺失患者中CHN1的缺失。
Graefes Arch Clin Exp Ophthalmol. 2015 Mar;253(3):491-2. doi: 10.1007/s00417-014-2828-7. Epub 2014 Oct 22.
8
Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.在一个大型汉族先天性眼球后退综合征家系中鉴定到 CHN1 基因新的 p.(Phe213Val)变异。
Sci Rep. 2020 Oct 1;10(1):16225. doi: 10.1038/s41598-020-73190-1.
9
Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.一个中国家系中 CHN1 基因突变致 Duane 退缩综合征的特殊临床特征
Strabismus. 2024 Mar;32(1):23-29. doi: 10.1080/09273972.2023.2299470. Epub 2024 Mar 20.
10
Duane's syndrome.杜安综合征
Eur J Neurol. 2000 Mar;7(2):145-9. doi: 10.1046/j.1468-1331.2000.00029.x.
引用本文的文献
1
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.两个新的 CHN1 变异在 Duane 退缩综合征家系中被发现，破坏了斑马鱼眼运动神经的发育。
J Hum Genet. 2024 Jan;69(1):33-39. doi: 10.1038/s10038-023-01201-w. Epub 2023 Oct 18.
2
Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.中国先天性颅神经发育障碍患者的临床和遗传特征。
Orphanet J Rare Dis. 2022 Dec 9;17(1):431. doi: 10.1186/s13023-022-02582-5.
3
Chromosomal microarray analysis of patients with Duane retraction syndrome.杜安眼球后退综合征患者的染色体微阵列分析。
Int Ophthalmol. 2019 Sep;39(9):2057-2067. doi: 10.1007/s10792-018-1042-8. Epub 2018 Nov 26.
4
Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.眼部先天性颅神经支配障碍（CCDDs）：对轴突生长和导向的见解
Hum Mol Genet. 2017 Aug 1;26(R1):R37-R44. doi: 10.1093/hmg/ddx168.
5
Congenital cranial dysinnervation disorders.先天性颅神经支配障碍性疾病
Int Ophthalmol. 2017 Dec;37(6):1369-1381. doi: 10.1007/s10792-016-0388-z. Epub 2016 Nov 11.
6
Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI.两名双侧第四和第六颅神经缺失患者中CHN1的缺失。
Graefes Arch Clin Exp Ophthalmol. 2015 Mar;253(3):491-2. doi: 10.1007/s00417-014-2828-7. Epub 2014 Oct 22.
7
Strabismus genetics across a spectrum of eye misalignment disorders.斜视遗传学与一系列眼球错位疾病
Clin Genet. 2014 Aug;86(2):103-11. doi: 10.1111/cge.12367. Epub 2014 Mar 26.
8
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.非共同性斜视的遗传基础：疾病遗传基础的现有知识整合
Semin Ophthalmol. 2013 Sep-Nov;28(5-6):427-37. doi: 10.3109/08820538.2013.825288.
9
Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome.婴儿内斜视可能是多基因的，并且与杜安眼球后退综合征等位基因相关。
Mol Vis. 2011;17:1997-2002. Epub 2011 Jul 20.
10
Two novel CHN1 mutations in 2 families with Duane retraction syndrome.两个患有杜安眼球后退综合征的家族中发现两种新的CHN1突变。
Arch Ophthalmol. 2011 May;129(5):649-52. doi: 10.1001/archophthalmol.2011.84.
本文引用的文献
1
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.人类CHN1突变会过度激活α2-嵌合蛋白并导致杜安眼球后退综合征。
Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24.
2
Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.两个将杜安眼球后退综合征作为显性性状进行分离的家系定位于DURS2基因座。
Invest Ophthalmol Vis Sci. 2007 Jan;48(1):189-93. doi: 10.1167/iovs.06-0631.
3
HOXA1 mutations are not a common cause of Duane anomaly.HOXA1基因突变并非杜安综合征的常见病因。
Am J Med Genet A. 2006 Apr 15;140(8):900-2. doi: 10.1002/ajmg.a.31167.
4
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.纯合子HOXA1突变会破坏人类脑干、内耳、心血管和认知发育。
Nat Genet. 2005 Oct;37(10):1035-7. doi: 10.1038/ng1636. Epub 2005 Sep 11.
5
No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS).在孤立性散发性杜安眼球后退“综合征”（DURS）中未发现SALL4基因突变的证据。
Am J Med Genet A. 2004 Dec 1;131(2):216-8. doi: 10.1002/ajmg.a.30321.
6
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.在一名杜安综合征患者中，8号染色体长臂上的一个肽酶基因因平衡易位而被破坏。
Invest Ophthalmol Vis Sci. 2002 Dec;43(12):3609-12.
7
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.杜安桡骨射线综合征（奥基希罗综合征）定位于20q13，由SAL家族的新成员SALL4基因突变引起。
Am J Hum Genet. 2002 Nov;71(5):1195-9. doi: 10.1086/343821. Epub 2002 Oct 22.
8
Okihiro syndrome is caused by SALL4 mutations.绪方综合征由SALL4基因突变引起。
Hum Mol Genet. 2002 Nov 1;11(23):2979-87. doi: 10.1093/hmg/11.23.2979.
9
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.杜安综合征连锁关系的确认以及疾病基因座在2号染色体q31区域精细定位至8.8厘摩区间
Hum Genet. 2000 Jun;106(6):636-8. doi: 10.1007/s004390000311.
10
Localization of a gene for Duane retraction syndrome to chromosome 2q31.杜安眼球后缩综合征基因定位于2号染色体长臂31区。
Am J Hum Genet. 1999 Dec;65(6):1639-46. doi: 10.1086/302656.
Zotero 插件