Table 1 of
Nguyen, Mol Vis 2021; 27:555-563. Table 1 of
Nguyen, Mol Vis 2021; 27:555-563.
Table 1. PAX6 gene mutations identified in aniridia patients by Sanger sequencing and MLPA methods.
| Family .No | Patient ID | Exon/ intron | Nucleotide change | Protein change | Variant type | Reference |
|---|---|---|---|---|---|---|
| S2 | AN2 | DCDC1, ELP4 genes deletion downstream of PAX6 | Anna Wawrocka et al.. 2013 | |||
| S3 | AN3 | Exon 7 | c.375–376del | p.(Arg125Serfs*6) | Frameshift | novel |
| S5 | AN5 | Exon 8 | c.538C>T | p.(Gln180*) | Nonsense | novel |
| S6 | AN6 | Intron 9 | c.765+1G>A | p.? | Splice site | novel |
| S8 | AN8 | Exon 11 | c.949C>T | p.(Arg317*) | Nonsense | LOVD |
| F11 | AN13 AN14 | Whole gene deletion | Anna Wawrocka et al.. 2013 | |||
| F12 | AN15 AN16 | Exon 8 | c.551insG | p.(Glu185Argfs*14) | Frameshift | novel |
| F13 | AN17 AN18 AN19 | Exon 7 | c.433A>T | p.(Lys145*) | Nonsense | novel |
| F14 | AN20 AN21 | Exon 7 | c.403C>T | p.(Gln135*) | Nonsense | novel |
| F15 | AN22 AN23 AN24 | Exon 5 | c.112del | p.(Arg38Glyfs*16) | Frameshift | LOVD |