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. 2015 Oct 28;24(7):985–991. doi: 10.1038/ejhg.2015.232

Figure 1.

Figure 1

Detection of a deletion encompassing the entire ZEB1 gene in a family (C17) with posterior polymorphous corneal dystrophy 3. (a) WES revealed a run of homozygous SNPs spanning the ZEB1 locus in three affected individuals. Informative SNPs in red show what appears to be inconsistent inheritance of alleles within the pedigree. The region predicted to be deleted, on the basis of these data, is shown within the boxed area with flanking heterozygous SNPs demonstrating the presence of two alleles. (b) Long-range PCR using primers that flank the deleted region produced an ~3-kb amplimer in affected individuals II:2, III:1, IV:1, but not in an unaffected (U) control sample or non-template control (NTC). (c) Sanger sequencing across the deletion breakpoints in proband II:2 revealed a deletion spanning chr10.hg19:g.29,277,299_32,553,577del. A full colour version of this figure is available at the European Journal of Human Genetics journal online.