先天性白内障一患病家系的突变基因筛查

Abstract
Figure/Table
References (19)
Related Citation (11)

Download: PDF (0 KB) HTML (38 KB)
Export: BibTeX | EndNote (RIS)

Abstract Objective To screen mutation in pathogenic genes in a family with congenital blue dot cataract,so as to explore their potential genetic defects.Methods A congenital blue dot cataract family in Heilongjiang province was collected in September 2017.After detailed medical history collection and clinical examination of this family and normal controls,polymerase chain reaction (PCR) sequencing was used to detect the mutation of candidate genes in cataract hot spots.Results The heterozygous missense mutation of c.10T＞C was found in the GJA8 gene of this family,which resulted in the change of the highly conserved tryptophan in the fourth position to arginine (p.W4R),but the mutation was not found in the normal members of the family or the normal controls.Conclusion The GJA8 gene c.10T＞C mutation is the potential genetic etiology of this family,which extends the GJA8 gene mutation spectrum of congenital cataract.

Key words： Congenital cataract GJA8 genes Mutation Connexin

	Service

	E-mail this article
	Add to my bookshelf
	Add to citation manager
	E-mail Alert
	RSS
	Articles by authors
	WANG Zhong-ying
	LIU Shan-he
	ZHENG Gui-qian
	HAO Lin-na
	HU shan-shan

Cite this article:

WANG Zhong-ying,LIU Shan-he,ZHENG Gui-qian, et al. Screening of mutation genes in a family with congenital cataract[J]. 中国当代医药, 2020, 27(5): 4-6转11.

URL:

http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2020/V27/I5/4

[1]	葛坚，王宁利.眼科学[M].3版.北京：人民卫生出版社，2015：230-231.
[6]	杨家翼，邢怡桥.遗传性先天性白内障相关的基因突变和机制的研究进展[J].医学综述，2018，24（23）：4640-4646.
[7]	饶艳.两个先天性核性白内障家系的突变筛查及突变蛋白功能研究[D].武汉：武汉大学，2017.
[10]	Hu S，Wang B，Zhou Z，et al.A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree[J].Mol Vis，2010，16：1585-1592.
[2]	Li B，Liu Y，Liu Y，et al.Identification of a GJA3 mutation in a large family with bilateral congenital cataract[J].DNA Cell Biol，2016，35（3）：135-139.
[3]	Lin D，Chen J，Lin Z，et al.10-year overview of the hospitalbased prevalence and treatment of congenital cataracts：the CCPMOH experience[J].PLoS One，2015，10（11）：e0142298.
[4]	Gong X，Song ZX，Wang LQ，et al.Screening and identification of genetic defect with congenital posterior polar cataract in a Chinese family[J].Rec Adv Ophthalmol，2015，35（12）：1113-1115.
[5]	Hansen L，Mikkelsen A，Nürnberg P，et al.Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract[J].Invest Ophthalmol Vis Sci，2009，50（7）：3291-303.
[8]	Ren M，Yang XG，Dang XJ，et al.Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family[J].Graefes Arch Clin Exp Ophthalmol，2017，255（1）：141-151.
[9]	Mi cheal S，Niewold ITG，Siddiqui SN，et al.Delineation of novel autosomal recessive mutation in GJA3 and autosomal dominant mutations in GJA8 in Pakistani congenital cataract families[J].Genes（Basel），2018，9（2）：pii：E112.
[11]	Yao K，Wang W，Zhu Y，et al.A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family[J].Hum Mutat，2011，32（12）：1367-1370.
[12]	Shi Q，Jiang JX.Connexin arrests the cell cycle through cytosolic retention of an E3 ligase[J].Mol Cell Oncol，2016，3（2）：e1132119.
[13]	White TW.Unique and redundant connexin contributions to lens development[J].Science，2002，295（5553）：319-320.
[14]	Oh S，Abrams CK，Verselis VK，et al.Stoichiometry of transjunctional voltage-gating polarity reversal by a negative charge substitution in the amino terminus of a connexin32 chimera[J].J Gen Physiol，2000，116（1）：13-31.
[19]	王秋菊，沈亦平，邬玲仟，等.遗传变异分类标准与指南[J].中国科学（生命科学），2017，47（6）：668-688.
[15]	Musa H，Fenn E，Crye M，et al.Amino terminal glutamate residues confer spermine sensitivity and affect voltage gating and channel conductance of rat connexin40 gap junctions[J].J Physiol，2004，557（Pt 3）：863-878.
[16]	Dong L，Liu X，Li H，et al.Role of the N-terminus in permeability of chicken connexin45.6 gap junctional channels[J].J Physiol，2006，576（Pt 3）：787-799.
[17]	Thomas BC，Minogue PJ，Valiunas V，et al.Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50[J].Invest Ophthalmol Vis Sci，2008，49（6）：2549-2556.
[18]	Zhang L，Liang Y，Zhou Y，et al.A missense mutation in GJA8 encoding connexin 50 in a Chinese pedigree with autosomal dominant congenital cataract[J].Tohoku J Exp Med，2018，244（2）：105-111.