Abstract:
OBJECTIVE:This study was undertaken with the objective to investigate the potential involvement of VAX2 in retinal degeneration. METHODS:A cohort of macular and cone dystrophy patients (n = 70) was screened for variant identification. Polymerase chain reaction (PCR) products were purified using ExoSAP-IT. Direct sequencing of PCR products was performed using BigDye 3.1 on the ABI 3730 DNA Analyzer and analyzed using DNASTAR software tool. Search for known variant was performed using the following platforms: 1000 Genomes Project, Ensembl, UCSC, ExAc, and dbSNP. The VAX2 mutants were generated using the GeneArt® Site-Directed Mutagenesis kit. In vitro analysis was performed in hTERTRPE-1 (RPE-1) cell line. Cells were photographed using a Zeiss AXIOVERT S100 microscope. Images were analyzed using Photoshop CS4 software. RESULTS:Here, we report the identification of a heterozygous non-synonymous variant (c.416T>G; p.Leu139Arg) in one cone dystrophy proband. Functional characterization of this variant in vitro revealed an aberrant phenotype seen as protein mislocalization to cytoplasm/nucleus and aggregates undergoing degradation or forming aggresomes. The cellular phenotype suggests protein loss-of-function. Analysis of the VAX2 p.Leu139Met, a variant present in the normal population, showed a phenotype similar to the wild-type, further supporting the hypothesis for the Leucine 139 to Arginine change to be damaging. CONCLUSIONS:This study raises the interesting possibility for evaluating VAX2 as a candidate gene for cone dystrophy.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Alfano G,Waseem NH,Webster AR,Bhattacharya SSdoi
10.1080/13816810.2018.1484927subject
Has Abstractpub_date
2018-08-01 00:00:00pages
539-543issue
4eissn
1381-6810issn
1744-5094journal_volume
39pub_type
杂志文章abstract::When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those see...
journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810701663535
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abstract::Isolated congenital lens coloboma is a sectoral indentation of the crystalline lens due to zonular weakness or absence. The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an under-recognized cause of congeni...
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2019.1622022
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2018.1502791
更新日期:2018-10-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2018.1436183
更新日期:2018-06-01 00:00:00
abstract::We present six patients with typical Hallermann-Streiff syndrome. All have microphthalmia and were operated for congenital cataract. Three of the patients developed a severe glaucoma and one patient presented repeated uveal effusions. Five of our patients have the same pattern of corneal stromal opacities. The opaciti...
journal_title:Ophthalmic genetics
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更新日期:2008-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1786842
更新日期:2020-10-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2019.1660381
更新日期:2019-08-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.23.2.121.2211
更新日期:2002-06-01 00:00:00
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doi:10.1080/13816810590918406
更新日期:2005-03-01 00:00:00
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doi:10.3109/13816810.2014.886270
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doi:10.3109/13816810.2012.736590
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journal_title:Ophthalmic genetics
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更新日期:2009-03-01 00:00:00
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pub_type: 杂志文章,meta分析,评审
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更新日期:2017-07-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.536064
更新日期:2011-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819509059970
更新日期:1995-09-01 00:00:00
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journal_title:Ophthalmic genetics
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更新日期:2009-06-01 00:00:00
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journal_title:Ophthalmic genetics
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更新日期:2021-01-03 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1203442
更新日期:2017-05-01 00:00:00
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