Table 4.
Properties of Alu-Mediated CNVs Derived from Large Studies of CNVs at Specific Loci
| Study | Gene | Syndrome | CNVs Studied (Unique) | Dups | Alu-Mediated CNVs | Average Breakpoint Alu Pair % Identity (Range) | Average Breakpoint Microhomology (Range) | Complex Alu-Mediated CNVs | Alus in Pair from Same Family | CNV size Avg. (Range) | Some Repeats Used in More than One CNV? |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Present | SPAST | Spastic paraplegia 4 | 57 (44) | 4 | 39/57 (68%) | 82.7% (75.8%–90.7%) | 17 bp (5–38 bp) | 3/39 (8%) | 6/39 (15%) | 19.0 kb (1.9–73 kb) | yes |
| Frank et al.16 | VHL (MIM 608537) | Von Hippel-Lindau syndrome | 33 (32) | 0 | 29/33 (88%) | not reported | 16 bp (2–45 bp) | 2/29 (7%) | 15/29 (52%) | 38.2 kb (0.8–249 kb) | yes |
| Kuiper et al.68 | EPCAM (TACSTD1 [MIM 185535]; upstream of MSH2 [MIM 609309]) | Lynch syndrome | 45 (19) | NAa | 45/45 (100%) | 81% (75%–91%) | 15 bp (3–32; one 0 bp) | 2/19 (11%) | 5/19 (26%) | 11.1 kbb (2.4–23.8 kb) | yes |
a
Only deletions were studied.
b
Deletions affecting MSH2 were specifically excluded, limiting the potential size of CNVs.