Suzanne de Bruijn

174 Chapter 4 Figure 2. Overview of structural variants within the RP17-locus in adRP families. Breakpoints are indicated with dashed lines. Blue segments represent duplicated or triplicated regions, whereas inversions are highlighted in purple. (A) Wildtype (WT) chromosomal organization. (B) Structural variants identified in NL1 (NL-SV1) and UK founder haplotype families (UK- SV2). (C) Structural variants identified in adRP families that were previously linked to the RP17-locus; SA-SV3 10 , and CA-SV4 (unpublished data). (D) Structural variants found in a cohort of unsolved adRP families; NL-SV5, UK-SV6, UK-SV7, UK-SV8. Letters A-AI depict the genomic intervals for each SV used to analyze and annotate SV breakpoints. (E) Overview of all SV breakpoints identified in the RP17-locus. An overlapping genomic region that is duplicated or triplicated in all SVs was identified (chr17:57,499,214-57,510,765) and is highlighted by a light-blue vertical bar. The size of DHX40 is reduced and CLTC is partially shown for the purpose of this figure.