Jos Jansen

56 Chapter 2 Supplementary files Figure S1. Linkage analysis of CCDC115 deficient family F1 Homozygosity mapping in family F1 (F1-II1 and F1-II2, the unaffected sibling F1-II3 and both parents) was done with the XBA142 10K SNP array (Affymetrix) according to manufacturer’s instructions. After quality control (including Pedcheck) parametric linkage analysis was performed using AllegroV2 under a recessive disease model. We found homozygous regions with the theoretical maximum lodscore of 1.93 in this small core pedigree.(1,2) Figure S2. CCDC115 Western Blot We used polyclonal anti-CCDC115 antiserum (provided by Dr. F. Pellicano and Dr. T. Iwata) and HRP-conjugated anti-rabbit secondary antibody. Monoclonal mouse anti- β -actin antibody (Santa Cruz, #SC-81178) was used for loading control with an HRP-conjugated anti-mouse secondary antibody for ECL detection.