Abstract:Anophthalmia and microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole genome copy number variation analysis in sixty patients affected with isolated or syndromic A/M. Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia. Other variants of interest included regions with a known role in human disease (likely pathogenic) as well as novel rearrang… Show more
“…2013). The Database of Genomic Variants (http://projects.tcag.ca/variation/) was used as a control population along with 30 unaffected in‐house controls; a control population specifically matched to the patient's Trinidad and Tobago ancestry was not available.…”
Section: Methodsmentioning
confidence: 99%
“…Data were evaluated for mutations in 203 genes known to be involved in ocular development (Schilter et al. 2013) through the Geospiza GeneSifter Analysis program hosted through Perkin Elmer Bioinformatics. The entire exome was analyzed using the SNP & Variation Suite (SVS; Golden Helix, Bozeman, MT) as previously described (Deml et al.…”