FIGURE 1.

RB1CC1 duplication and overexpression. (a) Identification of RB1CC1 duplication by high‐resolution array‐CGH (400 K). The duplicated region, arr[GRCh38] 8q11.23(52560156_52801994)x3, encompassing RB1CC1, does not completely overlap with any CNV reported in DGV (Database of Genomic Variants), and does not disrupt any topologically associating domain (TAD), as assessed by 3D Genome Browser (http://promoter.bx.psu.edu/hi‐c/). The duplication was also confirmed on NGS data by using the Control‐FREEC and EXCAVATOR CNV‐calling tools. (b) RB1CC1 expression in patient and controls. RB1CC1 expression in proband's PBLs, adjusted for variable cDNA amount measured by GAPDH expression, was over 27 times higher than the average of eight healthy controls without RB1CC1 CNVs. All samples were run in triplicate