Table 1 Reported Multiple Ocular Manifestations in BPES Caused by c.672_701dup or other disease causal variants in FOXL2
No | Variant | Anisometropia | PM | Congenital cataract | Other clinical features | Reference (PMID) |
|---|---|---|---|---|---|---|
1 | c.672_701dup |  +  | - | - | NA | 31,048,069 |
2 | c.672_701dup | - | - | NA | NA | 17,968,144 |
c.273C > G | - | - | NA | NA | ||
c.663_692dup | - | - | - | NA | ||
c.307C > T |  +  | - | - | NA | ||
c.855_871dup |  +  | - | - | NA | ||
c.576_577insC |  +  | - | - | NA | ||
3 | c.672_701dup | NA | - | NA | NA | 33,875,939 |
4 | c.672_701dup | NA | NA | NA | NA | 27,283,035 |
c.663_692dup30 | NA |  +  | NA | NA | ||
5 | c.672_701dup | NA | NA | NA | NA | 23,441,113 |
6 | c.672_701dup | NA | NA | NA | NA | 17,277,738 |
7 | c.672_701dup | NA | NA | NA | NA | 22,926,839 |
8 | c.672_701dup | NA | NA | NA | NA | 21,325,395 |
9 | c.672_701dup | NA | NA | NA | NA | 18,484,667 |
10 | c.650C > G | NA |  + (2/3) | - | NA | 22,312,189 |
11 | c.844_860dup17 |  + (1/4) |  + (2/4) | NA | NA | 28,849,110 |
12 | c.876dupC | - | - | - | NA | 19,929,410 |
13 | c.672_701dup | NA | NA | NA | Congenital hydronephrosis; hypertensive | 25,192,944 |
14 | c.672_701dup | NA | NA | NA | Duane syndrome | 16,283,882 |
15 | c.672_701dup | NA | NA | NA | 2/3 skin syndactyly | 18,642,388 |
c.672_701dup | NA | NA | NA | Pediatric Burkitt lymphoma | ||
c.672_701dup | NA | NA | NA | Small apical muscular ventricular septal heart defect | ||
16 | NA | NA | NA |  +  | NA | 35,219,116 |