Figure 4 of Mateo, Mol Vis 2012; 18:1301-1311.


Figure 4. Illustration of the homozygous regions and the IBD interval in the four probands. The regions of homozygosity, which range from 330 kb to 10.4 Mb, include a 330 kb IBD interval common to all probands (red line). This interval contains ZDHHC21 and CER1, and is 16 kb 3′ of FREM1’s last exon. Homozygosity mapping defined one IBD interval suggesting that mutation responsible for MOTA lies within the narrow 330 kb region.