Suzanne de Bruijn

209 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa A SA1 (8-61) 4 6 3 5 2 3 3 3 2 3 2 3 2 4 2 3 2 2 2 2 3 3 2 2 2 2 2 2 3 4 SA2 (17-19) 3 3 5 3 2 5 4 2 2 SA3 (913) SA4 (RPD81) I II III IV V VI VII II III IV V VI I II III IV V B CA1 (W04-179) C NL2 (W18-1690) / NL-SV5 3 7 7 I II III IV V 6 6 5 3 7 3 4 2 5 3 3 2 5 I II III IV V UK13 (GC19255, GC1754) / UK-SV6 3 5 2 4 4 2 UK14 (GC4344) / UK-SV7 I II III IV V UK15 (GC23464) / UK-SV8 SA-SV3 CA-SV4 Figure S2. Additional adRP families with structural variants within the RP17-locus. (A) Pedigrees of South African origin with structural variant 3 (SA-SV3) (B) Canadian family with structral variant 4 (CA-SV4). (C) Dutch family (NL2) with structural variant 5 (NL-SV5), UK family (GC19255/GC1754) with structural variant 6 (UK-SV6), UK family (GC4344) with structural variant 7 (UK-SV7) and UK family (GC23464) with structural variant 8 (UK-SV8). WGS or WES was performed in individuals in blue or red, respectively.