Table 2 of Villarroel,
Mol Vis 2008; 14:1650-1658. Table 2 of Villarroel,
Mol Vis 2008; 14:1650-1658.
Table 2. PAX6 gene mutations and polymorphisms identified in nine non-related Mexican aniridia cases.
| Case | Iris grade* | Nucleotide change** | Nucleotide change*** | mRNA/ protein effect |
Exon/ Domain |
Mother´s Genotype | Father´s Genotype | Status/Reference |
|---|---|---|---|---|---|---|---|---|
| 4 | Iris 5 | c.184_188dupGAGAC | p.T63fsX18 | Exon 6/ Paired box |
Wild-type | Not available | Novel | |
| 6 | Iris 3 and 4 | c.361T>C | p.S121P | Exon 7/ Paired box |
Heterozygous for c.361T>C | Not available | Novel | |
| 10 | Iris 5 | c.607C>T | c.969C>T | p.R203X | Exon 8/ Linker region |
Wild-type | Not available | Previously reported (Human PAX6 allelic database) |
| 18 | Iris 5 | c.357+1G>C | c.IVS6+1G>C | Cryptic donor splice-site and in-frame deletion of 36 amino acids coded by exon 6 | Intron 6/ Paired box |
Wild-type | Wild-type | Previously reported [22] |
| Heterozygous for c.-129+9G>A | Heterozygous for IVS2+9G>A | None | Intron 2 | Homozygous for G allele | Heterozygous for IVS2+9G>A (c.-129+9G>A) | Previously described as polymorphism (Human PAX6 allelic database), but also as a possible pathogenic variant [20]. Present study confirmed that it is a polymorphism | ||
| 20 | ? | c.491delC | c.853delC | p.P164fsX43 | Exon 7/ Linker region |
Not available | Not available | Previously reported [5,22] |
| 21 | Iris 5 | c.879dupC | p.T293fsX47 | Exon 10/ PST domain |
Heterozygous for c.879dupC | Wild-type | Novel | |
| 22 | Iris 6 | c.277G>A | p.E93K | Exon 6/ Paired box |
Not available | Not available | Novel | |
| c.766-12C>T | IVS9-12C>T | None | Intron 9 | Not available | Not available | Polymorphism previously reported [21] | ||
| 24 | ? | c.607C>T | c.969C>T | p.R203X | Exon 8/ Linker region |
Wild-type | Wild-type | Previously reported (Human PAX6 allelic database) |
| 26 | Iris 6 | c.524-2A>G | IVS7-2A>G | In silico prediction: 3 cryptic acceptor splice-sites (2 out-of-frame and 1 in-frame) inside exon 8 or in-frame exon 8 skipping. | Intron 7/ Linker region |
Not available | Not available | Previously reported [22] |