High-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus.

ABSTRACT:

Purpose

To determine whether patients with sporadic, non-familial keratoconus and no pathogenic mutations in the visual system homeobox 1 (VSX1) gene have evidence of chromosomal copy number alterations.

Methods

Twenty Saudi Arabian patients with isolated keratoconus, no family history of the disease and no mutations in VSX1 were recruited. Additionally, 10 ethnically-matched healthy controls were also recruited for this study. We screened patients for chromosomal copy number aberrations using the Agilent Human Genome CGH 244A Oligo Microarray Chip.

Results

None of the keratoconus patients screened had evidence of chromosomal copy number alterations when compared to normal ethnically matched controls.

Conclusions

Chromosomal deletions and/or duplications were n

SUBMITTER: Abu-Amero KK 

PROVIDER: S-EPMC3081803 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature