VSX1 gene analysis in keratoconus

To screen the visual system homeobox 1 (VSX1) gene in keratoconus patients. The enntire coding region of VSX1, including intron-exon boundaries were amplified in keratoconus cases (n=50) and controls (n=50). All sequences were analyzed against the ensemble sequence (ENSG00000100987) for VXS1. Sequen...

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Bibliographic Details
Published in:Molecular vision 2010-11, Vol.16, p.2395-2401
Main Authors: Tanwar, Mukesh, Kumar, Manoj, Nayak, Bhagabat, Pathak, Dhananjay, Sharma, Namrata, Titiyal, Jeewan S, Dada, Rima
Format: Article
Language:English
Subjects:
Adolescent
Adult
Amino Acid Substitution - genetics
Base Sequence
Child
Codon - genetics
DNA Mutational Analysis
Eye Proteins - genetics
Female
Homeodomain Proteins - genetics
Humans
Introns - genetics
Keratoconus - genetics
Male
Molecular Sequence Data
Phenotype
Young Adult
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Summary:To screen the visual system homeobox 1 (VSX1) gene in keratoconus patients. The enntire coding region of VSX1, including intron-exon boundaries were amplified in keratoconus cases (n=50) and controls (n=50). All sequences were analyzed against the ensemble sequence (ENSG00000100987) for VXS1. Sequencing analysis showed four alterations (p.A182A, p.R217H, p.P237P, and g.25059612C>T) in VSX1 of which g.25059612C>T (in intron 2) was found to be novel. Of these four, p.A182A and p.P237P were present in both cases as well as controls while p.R217H and g.25059612C>T were limited to cases only. All these changes were non-pathogenic. In our study no pathogenic VSX1 mutation was identified. The role of VSX1 in the pathogenesis of keratoconus is still controversial. VSX1 mutations are responsible for a very small fraction of all observed keratoconus cases. The absence of pathogenic mutations in VSX1 in our patients indicates that other genetic loci like 13q32 as suggested by a recent study may be involved in the pathogenesis of this disorder.
ISSN:1090-0535
1090-0535