Figure 7.

WWOX germline pathogenic variants in SCAR12 and WWOX-related epileptic encephalopathy (WOREE). (a) Missense, nonsense, and splice-site/intronic variants affecting WWOX protein in SCAR12 (red colored circles) and WOREE cases (gray colored circles for amino acid alterations and blue colored circles for splice-site/intronic variants). Size of each circle corresponds to the frequency of occurrence of the specific variant in single or multiple families, as noted. Mutation hotspots with more than one mutation at the same amino acid site or variants identified in more than one family are noted in red text. (b) Mapping of germline CNVs, duplications shown in red and deletions in black, of the WWOX locus in WOREE cases. Numbers next to dotted lines with arrowhead indicate coordinates of chromosomal breakpoints beyond the WWOX locus (human genome assembly GRCh38/hg38).