Study of &lt;b&gt;&lt;i&gt;VSX1&lt;/i&gt;&lt;/b&gt; Mutations in Patients with Keratoconus in Southwest Iran Using PCR-Single-Strand Conformation Polymorphism/Heteroduplex Analysis and Sequencing Method

Dehkordi, Fatemeh Azadegan; Rashki, Ahmad; Bagheri, Nader; Chaleshtori, Minoo Hashemzadeh; Memarzadeh, Ezzatollah; Salehi, Ali; Ghatreh, H.; Zandi, Farid; Yazdanpanahi, Nasrin; Tabatabaiefar, Mohammad Amin; Chaleshtori, Morteza Hashemzadeh

doi:10.1159/000353297

Cited by 20 publications

(11 citation statements)

References 34 publications

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“…However, in the same study the SOD1 intronic 7-base deletion (c.169 + 50delTAAACAG) was over-represented among keratoconic patients compared to healthy controls [52]. R166W and H244R VSX1 variants might play critical role in the pathogenesis of keratokonic corneas, as suggested by SaeeRad et al [53].…”

Section: Other Genes Implicated In Keratoconus Pathogenesismentioning

confidence: 70%

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The Genetic Background of Keratoconus: A Review on Keratoconus Genes

Moschos¹,

Gazouli²,

Nitoda³

2016

J Clin Exp Ophthalmol

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Keratoconus is a chronic, bilateral, usually asymmetrical, non-inflammatory, ectatic disorder, being characterized by progressive steepening, thinning and apical scarring of the cornea. It affects approximately 1 in every 2000 individuals, but its incidence seems to be increased with the clinical use of corneal topography. Keratoconus is considered as a multifactorial disease, caused by the interaction between several genes, microRNAs and environmental factors, including eye rubbing, atopy, sun exposure, geographic location and race. Although the disease is usually sporadic, a genetic predisposition and raised incidence in familial and monozygotic twins have been described. Given that the diagnosis of the disease is based on a anterior eye assessment, the identification of certain genes could be an additional diagnostic tool. Furthermore, it may pave the way for the gene therapy of the disease.

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Section: Other Genes Implicated In Keratoconus Pathogenesismentioning

confidence: 70%

“…On the other hand Moschos et al reported no polymorphisms of VSX1 gene related to keratoconus [52]. However, in the same study the SOD1 intronic 7-base deletion (c.169 + 50delTAAACAG) was over-represented among keratoconic patients compared to healthy controls [52].…”

Section: Other Genes Implicated In Keratoconus Pathogenesismentioning

confidence: 82%

The Genetic Background of Keratoconus: A Review on Keratoconus Genes

Moschos¹,

Gazouli²,

Nitoda³

2016

J Clin Exp Ophthalmol

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“…Recently, disease-causing VSX1 mutations were identified in New Zealand and Han Chinese cohorts 75,76 . However, studies conducted in South Indian, Iranian, and Greek populations found no significant association between VSX1 mutations and susceptibility to KC 77–79 .…”

Section: Keratoconus (Kc)mentioning

confidence: 90%

Developments in Ocular Genetics

Aboobakar¹,

Allingham²

2014

Asia-Pacific Journal of Ophthalmology

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Purpose To highlight major advancements in ocular genetics from the year 2013. Design Literature review. Methods A literature search was conducted on PubMed to identify articles pertaining to genetic influences on human eye diseases. This review focuses on manuscripts published in print or online in the English language between January 1, 2013 and December 31, 2013. A total of 120 papers from 2013 were included in this review. Results Significant progress has been made in our understanding of the genetic basis of a broad group of ocular disorders, including glaucoma, age-related macular degeneration, cataract, diabetic retinopathy, keratoconus, Fuchs’ endothelial dystrophy, and refractive error. Conclusions The latest next-generation sequencing technologies have become extremely effective tools for identifying gene mutations associated with ocular disease. These technological advancements have also paved the way for utilization of genetic information in clinical practice, including disease diagnosis, prediction of treatment response and molecular interventions guided by gene-based knowledge.

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“…Gly 239 ArgPathogenic a, b Keratoconus–Italian[29]p. His 244 ArgUnknownKeratoconus+Caucasian, Iranian[16, 18, 34, 37]p. Ser 251 ThrUnknownKeratoconus–Indian[22]p.…”

Section: Discussionmentioning

confidence: 99%

Analysis of the VSX1 gene in sporadic keratoconus patients from China

Guan¹,

Wang²,

Zheng³

et al. 2017

BMC Ophthalmol

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BackgroundKeratoconus normally presents as a sporadic disease. Although different studies have found sequence variants of the visual system homeobox 1 (VSX1) gene associated with keratoconus in humans, no research has detected such variants in sporadic keratoconus patients from China. To investigate the possibility of VSX1 being a candidate susceptibility gene for Chinese patients with sporadic keratoconus, we performed sequence screening of this gene in such patients.MethodsWhole DNA was obtained from the leukocytes in the peripheral venous blood of 50 patients with sporadic keratoconus and 50 control subjects without this ocular disorder. Polymerase chain reaction single-strand conformation polymorphism analysis and direct DNA sequencing technology were used to detect sequence variation in the five exons and splicing regions of the introns of the VSX1 gene. The sequencing results were analyzed using DNAstar software.ResultsOne novel missense heterozygous sequence variant (p.Arg131Pro) was found in the first exon of the VSX1 gene in one keratoconus patient. Another heterozygous sequence variant (p.Gly160Val) in the second exon was found in two keratoconus patients. These variants were not detected in the control subjects. In the third intron of the VSX1 gene, c.8326G > A nucleotide substitution (including heterozygous and homozygous change) was also discovered. The frequency of this variation did not differ significantly between patients and controls, it should belong to single-nucleotide polymorphism of the VSX1 gene. Bioinformatic analysis also predicted that one missense sequence variation (p.Arg131Pro) may not cause a pathogenic change.ConclusionsIn this study, we added one novel missense sequence variation (p.Arg131Pro) in the coding region of the VSX1 gene to the range of VSX1 coding region variations observed in patients with sporadic keratoconus from China. Our work suggests that VSX1 sequence variants might be involved in the pathogenesis of sporadic keratoconus, but their precise role in disease causation requires further investigation.

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Study of <b><i>VSX1</i></b> Mutations in Patients with Keratoconus in Southwest Iran Using PCR-Single-Strand Conformation Polymorphism/Heteroduplex Analysis and Sequencing Method

Cited by 20 publications

References 34 publications

The Genetic Background of Keratoconus: A Review on Keratoconus Genes

The Genetic Background of Keratoconus: A Review on Keratoconus Genes

Developments in Ocular Genetics

Analysis of the VSX1 gene in sporadic keratoconus patients from China

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