TABLE 3.
Rare heterozygous CNVs of interest identified in patients with VCI
| Patient | AAO | Gender | Type | CNV | Size (bp) | Genes involved |
|---|---|---|---|---|---|---|
| 236 | 64 | M | Gain | chr6:163104432–165045334 | 1,940,903 | PARK2, PACRG, LOC401282, CAHM, QKI |
| 289 | 48 | M | Gain | chr15:94876580–95356210 | 479,631 | MCTP2 |
| 1005 | 60 | F | Gain | chr7:19035920–20617266 | 1,581,347 | HDAC9, TWIST1, FERD3L, TWISTNB, TMEM196, MACC1, ITGB8 |
| 1010 | 62 | M | Gain | chr3:193061741–193467943 | 406,203 | ATP13A5, ATP13A4, OPA1 |
| 1014 | 60 | M | Gain | chr8:6155658‐6391302 a | 235,645 | ANGPT2, MCPH1, AGPAT5 |
| chr8:6412551‐6574830 a | 162,28 | |||||
| 1029 | 63 | F | Loss | chr16:15491006–16258173 | 767,168 | MPV17L, BMERB1, MARF1, NDE1, MYH11, CEP20, ABCC1, ABCC6 |
| 1031 | 55 | F | Loss | chr2:133949948–134070417 | 120,47 | NCKAP5 |
| 1033 | 50 | F | Gain | chr1:92293721–92574940 | 281,22 | TGFBR3, BRDT, EPHX4, BTBD8 |
| 1039 | 27 | M | Loss | chr12:43937166–44009983 | 72,818 | ADAMTS20 |
Genome assembly: GRCh37/hg19.
Abbreviation: AAO, age at onset; bp, base pair.
a
The region between the two duplications in 8p23.1 was not covered in the GSAMD array.