Table 1.
Demographic and genetic information on PAX6 subjects
| Subject No. | Age/gender | Mutation at DNA level | Exon (protein domain) | Protein prediction | Mutation type |
|---|---|---|---|---|---|
| 1 | 40/F | c.115_116dupCC | 5 (PD) | p.Cys40ArgfsX15 | PTC by frameshift in PD predicted ‐ NMD likely |
| 2 | 18/F | c.683‐6T>A | 9 (HD) | p.Glu228GlyfsX5 | PTC by frameshift. Exon 9 skipped (RT‐PCR). NMD likely |
| 3 | 41/F | c.718C>T | 9 (HD) | p.Arg240X | PTC by direct stop codon mutation – NMD likely |
| 4 | 61/M | c.763C>T | 9 (HD) | p.Gln255X | PTC ultimately. Mutation in last codon of exon 9 may create stop codon and/or affect splicing leading to frame shift. NMD likely |
| 5 | 40/M | c.763C>T | 9 (HD) | p.Gln255X | PTC ultimately. Mutation in last codon of exon 9 may create stop codon and/or affect splicing leading to frame shift. NMD likely |
| 6 | 33/M | c.775dupT | 10 (HD) | p.Ser259PhefsX2 | PTC resulting from predicted frameshift. NMD likely |
| 7 | 36/M | c.775dupT | 10 (HD) | p.Ser259PhefsX2 | PTC resulting from predicted frameshift. NMD likely |
| 8 | 43/M | c.357 + 2dupT | 6 (PD) | 36 aa deletion | In‐frame deletion of 36 aa predicted in PD by RT‐PCR following splice site mutation and activation of weak exonic splice site |
| 9 | 38/M | c.357 + 5G>A | 6 (PD) | 36 aa deletion | In‐frame deletion of 36 aa likely predicted in PD following probably splice site mutation and activation of weak exonic splice site |
| 10 | 41/F | DNA mutation unknown | 6 (PD) | 36 aa deletion | In‐frame deletion of 36 aa predicted in PD by RT‐PCR following activation of weak exonic splice site. Actual mutation not found – may be deep intronic change |
| 11 | 35/M | del exon 10 + 11 | 10, 11 (PST) | 88 aa deletion | In‐frame deletion of 88 aa predicted as a result of deletion of exons 10 and 11 identified by MLPA |
| 12 | 60/F | c.1239delT | 13 (PST) | p.Asp413GlufsX*46 | C‐terminal extension predicted as a result of frame‐shift beyond the NMD boundary |
| 13 | 49/M | c.1267dupT | 13 (PST) | p.X423LeuextX*108 | C‐terminal extension predicted as a result of single‐nucleotide insertion abolishing stop codon |
| 14 | 52/M | c.1267dupT | 13 (PST) | p.X423LeuextX*108 | C‐terminal extension predicted as a result of single‐nucleotide insertion abolishing stop codon |
| 15 | 50/F | c.1267dupT | 13 (PST) | p.X423LeuextX*108 | C‐terminal extension predicted as a result of single‐nucleotide insertion abolishing stop codon |
| 16 | 37/M | c.1267dupT | 13 (PST) | p.X423LeuextX*108 | C‐terminal extension predicted as a result of single‐nucleotide insertion abolishing stop codon |
| 17 | 37/F | c.191G>T | 6 (PD) | p.Gly64Val | Missense change predicted in PD |
| 18 | 73/F | c.191G>T | 6 (PD) | p.Gly64Val | Missense change predicted in PD |
| 19 | 25/F | c.372C>A | 6 (PD) | p.Asn124Lys | Missense change predicted in PD |
PTC, premature termination codon; NMD, nonsense‐mediated decay (destruction of mRNA by cellular protection mechanism against protein fragment interference); PD, paired domain; HD, homeo domain; PST, proline serine threonine‐rich transactivation domain; aa, amino acid.