Figure 1. Pedigree and mutation analysis. A: A Muslim Arab family segregating adRP due to the c.1146+5G>T mutation in PRPF31. Filled symbols represent affected individuals, whereas clear symbols represent unaffected individuals. The genotypes of
the family members are indicated below them (+, wt; M, mutant). B: Integrative Genomics Viewer (IGV) visualization of the boundary between PRPF31 exon 11 and intron 11 in Subject II:1, showing a heterozygous G>T transversion at position 54,631,757 of chromosome 19 (GRCh37/hg19).
C: Nucleotide sequence traces of the boundary between PRPF31 exon 11 and intron 11 in a non-carrier individual (wt) and an affected individual heterozygous for the c.1146+5G>T mutant