Table 1 of Summers,
Mol Vis 2008; 14:2010-2015. Table 1 of Summers,
Mol Vis 2008; 14:2010-2015.
Table 1. Genes associated with Peters anomaly and anterior segment mesenchymal dysgenesis.
| Gene name | Protein function | Chromosome location | Major phenotype associated with mutations | Inheritance of ASMD | Reference for ASMD |
|---|---|---|---|---|---|
| FOXE3 | Transcription factor with fork-head DNA binding domain | 1p32 | ASMD (aphakia when homozygous or compound heterozygous) | Dominant | [12] |
| CYP1B1 | Monomeric mixed function mono-oxygenase, dioxin responsive | 2p22-p21 | Congenital glaucoma | Recessive | [13] |
| PITX2/RIEG1 | Transcription factor with bicoid paired DNA binding domain | 4q25 | Axenfeld-Rieger syndrome (ocular, dental and umbilical abnormalities) | Dominant | [14] |
| FOXC1 | Transcription factor with forkhead DNA binding domain | 6p25 | Spectrum of ocular and extraocular phenotypes including congenital glaucoma, Rieger anomaly, Axenfeld anomaly, cardiac abnormalities | Dominant | [15] |
| PITX3 | Transcription factor with bicoid paired DNA binding domain | 10q25 | Posterior polar cataract | Dominant | [4] |
| PAX6 | Transcription factor with paired type DNA binding domain | 11p13 | Aniridia | Dominant | [16] |
| B3GALTL | Glycosyl transferase | 13q12.3 | Peters Plus syndrome (ocular, facial, developmental and stature abnormalities) | Recessive | [17] |