Table 4.
Fifteen Novel or Rare Genomic Disorders Identified in 522 RHD Cases on the Basis of the Strictest Criteria
| Chromosomal Region | CNV Type | Start (Mb) | End (Mb) | Size (Mb) | Inheritance | Discovery (n = 192) | Replication 1 (n = 196) | Replication 2 (n = 134) | Combined (n = 522) | Controls (n = 13,839) | p Value |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1q32 | del | 162.68 | 163.19 | 0.51 | de novo | 1 | 0 | 0 | 1 | 0 | 0.036 |
| 2p25 | dup | 0.02 | 3.65 | 3.63 | N/A | 1 | 0 | 1 | 2 | 0 | 1.32 × 10−3 |
| 2p11 | dup | 88.16 | 89.24 | 1.08 | N/A | 0 | 0 | 1 | 1 | 0 | 0.036 |
| 3q13-q22 | del | 118.15 | 133.11 | 14.96 | de novo | 1 | 0 | 0 | 1 | 0 | 0.036 |
| 3q29 | dup | 199.17 | 199.32 | 0.15 | N/A | 1 | 1 | 0 | 2 | 3 | 0.012 |
| 4p13 | dup | 44.12 | 44.75 | 0.63 | de novo | 1 | 0 | 0 | 1 | 0 | 0.036 |
| 5q34 | dup | 159.53 | 160.58 | 1.05 | N/A | 0 | 2 | 0 | 2 | 0 | 1.32 × 10−3 |
| 7q21 | del | 79.33 | 80.91 | 1.58 | N/A | 0 | 1 | 0 | 1 | 0 | 0.036 |
| 10p11 | dup | 42.10 | 42.71 | 0.61 | N/A | 2 | 0 | 0 | 2 | 0 | 1.32 × 10−3 |
| 11p11 | dup | 49.58 | 50.52 | 0.94 | N/A | 0 | 2 | 0 | 2 | 1 | 3.86 × 10−3 |
| 12q24 | dup | 124.67 | 132.29 | 7.52 | de novo | 1 | 0 | 0 | 1 | 0 | 0.036 |
| 13q11 | del | 22.44 | 23.80 | 1.36 | de novo | 1 | 0 | 0 | 1 | 3 | 0.138 |
| 13q12 | dup | 36.28 | 37.51 | 1.23 | inherited | 1 | 0 | 0 | 1 | 0 | 0.036 |
| 16q22 | del | 73.39 | 73.90 | 0.51 | de novo | 1 | 0 | 0 | 1 | 0 | 0.036 |
| 17q25 | dup | 71.00 | 78.63 | 7.63 | N/A | 0 | 0 | 1 | 1 | 0 | 0.036 |
CNV start and end positions are based on UCSC genome build hg18. These rare CNVs were selected on the basis of a frequency < 0.025% in controls and occurrence in ≥ 2 RHD cases or on the basis of de novo status or a size > 1 Mb. A complete list of novel, rare CNVs and additional information are reported in Table S10. The following abbreviations are used: CNV, copy-number variation; del, deletion; dup, duplication; and N/A, not available.