Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

Figure 4

ANKIB1 gene breakpoint determination by RT-QPCR (± standard error mean). Results from normal genomic DNA (2 normal controls mean), from the unaffected member of family (I : 1 sample), and in one affected members (II : 1) are visualized by a closed triangle (▲), a closed square (■), and a closed circle (●), respectively. The ANKIB1 exons on the left of the vertical dotted lines (exon1–10) show the copy number loss of the associated amplicons.