Figure 1. Families analyzed in this study. The structures of the pedigrees are shown for A: family MM1, B: case RP-3051 and C: case RP-1553. The proband in each pedigree is highlighted with an arrow. Microsatellite genotyping in family MM1 around the NRL locus is shown with allele sizes and haplotypes for three microsatellite markers, D14S1280, D14S608 and D14S599, located at 26.7, 28.8 and 34.7Mb from the top of chromosome 14 using the hg19/GRCh37 human reference genome. Haplotype analysis (red block) confirmed homozygosity in family MM1 around the NRL locus only in the affected cases. The NRL mutation (located at 24.6 Mb) is stated as M1, M2 and M3. Genomic DNA was only available from members to whom a genotype has been assigned. Note that only the affected individuals are homozygous for the mutation.