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. 2017 Oct 24;89(17):1821–1828. doi: 10.1212/WNL.0000000000004578

Figure 2. Founder mutation haplotype analysis.

Figure 2

Schematic representation of the candidate region on chromosome 13q13 containing UFM1 and part of FREM2. The area of overlapping haplotype is highlighted in light blue: section A depicts the results of the single nucleotide polymorphism (SNP) array in 5 patients: 238 overlapping homozygous SNPs starting with rs17068530 and ending with rs248423 (shown in black), flanked by rs9532135 and rs9566363 (shown in red). Section B depicts the microsatellite and SNP markers analyzed in the candidate region, which confirmed the presence of a common haplotype in all patients (markers depicted in black), flanked by microsatellite markers D13S219 and D13S1288 (shown in red).