Figure 2.

The de novo 9q21 microdeletions found in epileptic patients converge on RORB. (a) aCGH profile of the 8.5-Mb microdeletion event (from 70 984 481 to 79 549 501 nt, hg19 coordinates) detected in patient 9A1117. (b) aCGH profile of the 52-kb de novo partial microdeletion event (from 77 261 322 to 77 313 598 nt, hg19 coordinates) detected in patient GE0705. (c) Map of all microdeletions comprising RORB reported to date in epileptic patients. Note the existence of two de novo truncating events on either 5′²¹ and 3′²³ sides of RORB, in addition to the partial microdeletion of exons 5–10 reported here (patient GE0705).