A novel 13q12 microdeletion associated with familial syndromic corneal dystropy

We identified a family with a novel chromosome 13 microdeletion associated with a syndromic form of corneal opacification. In order to determine which genes in/around the microdeletion were contributing to the constellation of phenotypes, a corneal epithelial sample was obtained during a superficial keratectomy of the proband's 9-year-old brother. RNA was extracted from the corneal sample, sequenced, and gene expression levels compared to those of 10 control corneal samples from You et al. ("RNA-Seq analysis and comparison of corneal epithelium in keratoconus and myopia patients." Sci Rep, 2018.)