Table 2 of Mataftsi, Mol Vis 2011; 17:1624-1640. Table 2 of Mataftsi, Mol Vis 2011; 17:1624-1640.
Table 2. Chromosome loci associated with CCO without whole globe disruption according to CCO classification used in this review.
Phenotype |
Associated loci |
Genes in the region, known to be associated with ASDA in humans or mice |
|---|---|---|
| CCO with iridocorneal or keratolenticular adhesions (PA) | mosaic trisomy 8 [129] | ? |
| 1q41 or 7p21 [66] |
TGFbeta2 | |
| HDAC9 | ||
| S-CNA | 6p22.3-p24 [121] | FOXC1, TFAP2A |
| 9q22-q32 [130,133] | TGFBR1, ROR2 | |
| flat corneal dermoid | mosaic trisomy 8 [124-128] | ? |
| CCO of unspecified type | Xq27 or Xp22.3 [52] | SOX3 |
| 2p21 [78] | SIX3 | |
| 14q22.1–22.3 [151] | BMP4 | |
| ring21 [161] | ? |