Fig. 2.

USP7 deletions and point variants. (a) USP7 whole and partial gene deletions in eight individuals, six of which were previously reported, identified via chromosomal microarray (CMA) or genome sequencing. Asterisks denote previously described individuals; labels used in the previous report are indicated by numbers in parentheses.¹ Newly identified individuals are formatted in bold. Blue and green bars show the position of the deletions. Genomic coordinates are based on the Human Genome Assembly hg19. (b) Nonsense variants, frameshifting indels, and missense variants in USP7. Two individuals, one of whom was previously reported, have nonsense variants in USP7. Two newly identified individuals have frameshifting indels of USP7. Eight newly identified individuals have missense variants in USP7. Bolded variants indicate newly identified individuals; the nonbolded variant indicates a previously reported case. All variants based on NM_003470.2. In addition, three newly identified individuals with splice-site variants in USP7 are reported in the manuscript, which are not represented visually in this figure.