Table 1.
Rare and novel CNVs identified from Chinese infantile spasms children
| Subject | Sex | Onset of IS (month) | EEG (HYPS+/-) | Genomic location/coordinates (hg19) | Genomic event | Size | Inheritance | Candidate gene(s) |
|---|---|---|---|---|---|---|---|---|
|
Pathogenic |
|
|
|
|
|
|
|
|
| S100 |
M |
4 |
+ |
chr17:2,405,454-2,520,464 |
Del |
115 Kb |
De novo |
PAFAH1B1 |
| S37 |
M |
5 |
+ |
chr1:244,961,797-247,074,490 |
Del |
2.1 Mb |
De novo |
HNRNPU |
| S162 |
F |
6 |
- |
chr2:147,953,313-152,061,251 |
Del |
4.1 Mb |
De novo |
MBD5 |
| S67 |
F |
10 |
+ |
chr1:145,764,453-147,824,207 |
Dup |
2.0 Mb |
De novo |
CHD1L |
|
Unknown clinical significance |
|
|
|
|
|
|
|
|
| S15 |
F |
2 |
+ |
chr10:84,222,075-85,293,140 |
Dup |
1.0 Mb |
Paternal |
NRG3 |
| S34 |
M |
5 |
+ |
chrX:102,262,951-102,659,333 |
Dup |
396 kb |
Maternal |
NGFRAP1 |
| S134 |
F |
4 |
+ |
chr17:14,111,754-15,442,119 |
Del |
1.3 Mb |
Paternal |
PMP22 |
| S163 |
F |
4 |
+ |
chrX:6,451,691-8,115,193 |
Dup |
1.6 Mb |
Paternal |
STS,VCX3A |
| S165 |
M |
5 |
+ |
chr11:101,857,720-102,256,635 |
Del |
398 kb |
De novo |
YAP1 |
|
Probably benign |
|
|
|
|
|
|
|
|
| S2 |
M |
3 |
+ |
chr2:216,898,976-217,160,487 |
Dup |
261 kb |
Not determined |
|
| S34 |
M |
5 |
+ |
chr2:137,826,656-138,048,583 |
Dup |
221 kb |
Paternal |
|
| S42 |
M |
4 |
+ |
chr4:48,983,002-49,063,489 |
Dup |
80 kb |
Paternal |
|
| S75 |
M |
6 |
+ |
chr6:118,989,529-120,238,639 |
Dup |
1.2 Mb |
Not determined |
|
| S133 | M | 13 | - | chr8:135,644,952-135,791,363 | Dup | 146 Kb | De novo |