Table 3. Sequence variations found in BMP4, CRYBA4, GDF6, LRP6, RAX, SIX3, SIX6, SOX2, and VSX2.
| Gene | Exon | Sequence variation | Amino acid change | Patient number | Result |
|---|---|---|---|---|---|
| BMP4 |
4 |
c.455T>C |
S155S |
TT:TC:CC = 19:10:3 |
rs17563 |
| |
4 |
c.751C>T |
H251Y |
1 |
Novel variation |
| CRYBA4 |
Intron 2 |
c.40-71C>T |
No splice site change |
2 |
rs2071860 |
| |
Intron 3 |
c.158+58C>T |
No splice site change |
3 |
rs58707060 |
| |
Intron 3 |
c.159-20A>G |
No splice site change |
AA:A/G:GG = 8:19:13 |
rs59023621 |
| |
Intron 5 |
c.444-18g>a |
No splice site change |
4 |
|
| GDF6 |
1 |
c.255G>T |
P85P |
1 |
|
| LRP6 |
5 |
c.867C>T |
D289D |
1 |
|
| |
11 |
c.2450C>G |
S817C |
1 |
rs2302686 |
| |
14 |
c.3184G>A |
V1062I |
5 |
rs2302685 |
| RAX |
1 |
c.132C>A |
D44E |
6 |
rs2271733 |
| |
3 |
c.882A>G |
Q294Q |
4 |
|
| SIX3 |
1 |
c.90G>T |
A30A |
4 |
|
| SIX6 |
1 |
c.421C>A |
N141K |
7 |
rs33912345 |
| |
2 |
c.637C>T |
P213S |
1 |
|
| |
2 |
c.608G>A |
R203Q |
1 |
Novel variation |
| SOX2 |
1 |
c.573A>G |
A191A |
1 |
|
| VSX2 | 4 | c.750G>A | P250P | 1 |
No variation was identified in OTX2.