The NGS genetic screening for CCM disease allowed to demonstrate that case #7 was affected by a large hemizygous deletion on chromosome 7, involving the entire KRIT1 gene and upstream flanking sequences, including the entire CYP51A1 gene and the last 13 coding exons (from 38 to 50) of the AKAP9 gene (Figure 2A,B), which was previously undetected by Sanger sequencing. Here, CYP51A1 is linked to cerebral cavernous malformation.