Table 2 of
Mackay, Mol Vis 2011; 17:2706-2716. Table 2 of
Mackay, Mol Vis 2011; 17:2706-2716.
Table 2. Results of RDH12 mutational analysis.
Family |
Method of identification |
Ethnic origin |
Consang |
Mutation type |
Mutations |
Reference |
|---|---|---|---|---|---|---|
| 1 | Asper | BC | No | Het | c.295C>A, p.L99I; c.883C>T, p.R295X | [32] |
| 2 | Asper | GM | Yes | Hom | c.601T>C, p.C201R | [33] |
| 3 | Asper | BC | No | Het | c.715C>T, p.R239W; c.806_810 del 5bp, p.A269AfsX1 | [32]; [12] |
| 4 | Asper | BC | No | Het | c.700G>C, p.V233L; c.806_810 del 5bp,p.A269AfsX1 | Novel to this study [12]; |
| 5 | Asper | BC | No | Het | c.316 C>T, p.R106X; c.806_810 del 5bp,p.A269AfsX1 | Novel to this study [12]; |
| 6 | Asper | BC | No | Het | c.451C>G, p.H151D; c.806_810 del 5bp,p.A269AfsX1 | [32]; [12] |
| 7 | Asper | BC | No | Hom | c.146C>A, p.T49K | Novel to this study |
| 8 | Asper | B | Yes | Hom | c.193C>T, p.R65X | [31] |
| 9 | Asper | OC | No | Het | c.506G>A p. R169Q; c.57_60del, p.P20del | Novel to this study |
| 10 | Asper | OC | No | Het | c.209G>A, p.C70Y ; c.806_810del5bp,p.A269AfsX1 | Novel to this study [12]; |
| 11 | Asper | BC | No | Het | c.144 C>T, p.R62X; c.806_810del5bp, p.A269AfsX1 | [12] |
| 12 | Affymetrix | KI | Yes | Hom | c.599A>G, p.Y200C | Novel to this study |
| 13 | Affymetrix | BC | Yes | Hom | c.454T>A, p.F152I | Novel to this study |
| 14 | Affymetrix/ phenotype | I | No | Het | c.250C>T, p.R84X; c.381_delA, p.G127GfsX1 | Novel to this study |
| 15 | Direct Seq | A | Yes | Hom | c.609C>A, p.S203R | Novel to this study |
| 16 | Direct Seq | P | Yes | Hom | c.506G>A, p.R169Q | Novel to this study |
| 17 | Direct Seq | BC | No | Het | c.505C>T, p.R169W; c.525C>T, p.S175L | Novel to this study [54]; |
| 18 | Direct seq | PD | No | Het | c.448+1g>a; c.698insGT, p.V233VfsX45 | Novel to this study |
| 19 | Phenotype | P | Yes | Hom | c.619A>G, p.N207D | Novel to this study |
| 20 | Phenotype | GM | Yes | Hom | c.601T>C, p.C201R | [33] |
| 21 | Phenotype | P | Yes | Hom | c.506G>A, p.R169Q | Novel to this study |
| 22 | Phenotype | GM | Yes | Hom | c.601T>C, p.C201R | [33] |
| 23 | Phenotype | GH | Unknown | Hom | c.146C>T, p.T49M | [12] |
| 24 | Phenotype | SA | Yes | Hom | c.609C>A, p.S203R | Novel to this study |
| 25 | Phenotype | KI | No | Hom | c.379G>T, p.G127X | [31] |
| 26 | Phenotype | GM | Yes | Hom | c.601T>C, p.C201R | [33] |
| 27 | Phenotype | OC | No | Het | c.481C>T,p.R161W ; c.714insC, p.V238VfsX34 | Novel to this study |
| 28 | Phenotype | OC | Yes | Hom | c.609C>A p.S203R | Novel to this study |
| 29 | Phenotype | OC | No | Het | c.481C>T,p.R161W ; c.806_810del5bp, p.A269AfsX1 | Novel to this study [12]; |