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. Author manuscript; available in PMC: 2017 Jan 1.
Published in final edited form as: Ophthalmology. 2015 Oct 24;123(1):9–18. doi: 10.1016/j.ophtha.2015.10.006

Figure 2.

Figure 2

Discovery of NCMD-causing variants in MCDR1. The critical region of MCDR1 was narrowed to 883kb by a single unaffected recombinant individual (Supplemental Figure 1J, asterisk, available at http://aaojournal.org). Genome sequencing revealed 14 rare variants (violet vertical bars) across this region, one of which has never been observed in normal individuals (V1). This novel variant falls within a DNAse hypersensitivity site (pink) upstream of the PRDM13 gene (green) that was later found to include other rare variants in NCMD families (V2 and V3). Additionally, a 123kb tandem duplication containing the PRDM13 gene (yellow – V4) was discovered in one NCMD family.