Table 1.
Summary of genes associated with Peters anomaly (PA)
| Gene | Location | Function | Main phenotype | Reference for PA |
|---|---|---|---|---|
| B3GLCT | 13q12.3 | Beta-1,3-glucosyltransferase | Peters Plus syndrome | Lesnik Oberstein et al. (2006) |
| COL4A1 | 13q34 | Basement membrane collagen | Brain small vessel disease | Deml et al. (2014) |
| CYP1B1 | 2p22.2 | Cytochrome P450 monooxygenase | Primary congenital/infantile glaucoma | Vincent et al. (2006) |
| FLNA | Xq28 | Actin-binding protein | Otopalatodigital spectrum | This manuscript |
| FOXC1 | 6p25 | Transcription factor | Axenfeld–Rieger spectrum | Honkanen et al. (2003) |
| FOXE3 | 1p33 | Transcription factor | Microphthalmia, cataract | Ormestad et al. (2002) |
| HCCS | Xp22.2 | Holocytochrome C-type synthetase | Microphthalmia | This manuscript |
| NDP | Xp11.3 | Cystine knot growth factor | Norrie disease/familial exudative vitreoretinopathy | This manuscript |
| PAX6 | 11p13 | Transcription factor | Aniridia | Hanson et al. (1994) |
| PITX2 | 4q25 | Transcription factor | Axenfeld–Rieger spectrum | Reis et al. (2012) |
| PITX3 | 10q24.32 | Transcription factor | Cataract, multiple types | Semina et al. (1998) |
| SLC4A11 | 20p13 | SLC4 bicarbonate transporter | Corneal endothelial dystrophy 2 | This manuscript |
| TFAP2 | 6p24.3 | Transcription factor | Branchiooculofacial syndrome | This manuscript |