Fig. 2.

Extra genetic evidence for CNV involvement: DGCR6 and TBX20. a Location of DGCR6 gene on chromosome 22. CNV-calling on WES data of 67 BAV/TAA patient identified three validated DGCR6-containing duplications, as marked with a blue bar. The red bar represents the initial deletion identified in a BAV/TAA patient using microarray. Hi-C data of HUVECs predicted a TAD boundary at the locations of the DGCR6 deletion and duplication. b Location of TBX20 gene on chromosome 7. In DECIPHER, two overlapping deletions, marked by red bars, were identified in patients with a cardiovascular feature, i.e. atrial septal defect and ventricular septal defect. Hi-C data in HUVECs were suggestive for a TAD boundary near TBX20 that is affected by the CNV