Figure 1. .

Representative chromatograms from MLPA analysis of CCM1 and CCM2. A, Results for control individual with peaks corresponding to CCM1 and CCM2 exonic probes. There are two probes to CCM2 exon 2 (5′ and 3′) and one probe to a region 690 bp upstream of CCM2 exon 1 (“upstream”). All unlabeled peaks represent the control peaks resulting from the amplification of probes located on different chromosomes. B, Chromatogram from CCM-affected proband 254, showing the relative reduction in peak area of probes hybridizing to exons 5 and 6 of CCM2. Arrows mark the deleted CCM2 exons. C, Chromatogram from CCM-affected proband 186, showing the relative reduction in peak area of probes hybridizing to exons 2–10 of CCM2. This represents the common CCM2 deletion spanning CCM2 exons 2–10. Arrows mark the deleted CCM2 exons.