Figure 4

Diagram of the two large deletions identified in CDS-D and CDS-E families. A, Diagram of the 1058 bp deletion found in D-II-1, E-II-2 and E-II-1 patients. Normal sequences at the 5' and 3' breakpoints of the deletion are aligned with the deleted sequence. The 6 bp micro-homology at the breakpoints is highlighted in grey. Part of the Alu sequence at the 3'-breakpoint is underlined. The structure of the abnormal allele in the region of the deletion is shown at the bottom of the diagram. B, Diagram of the 1487 bp deletion identified in E-II-2 and E-II-1 patients. The breakpoints, reported on the model, are inside intron 4 and inside a GT repeat (black area) in intron 5. The site of the 18 bp insertion is also reported. It is in very close proximity of the breakpoint.