Table 6 of
Ajmal, Mol Vis 2012; 18:1558-1571. Table 6 of
Ajmal, Mol Vis 2012; 18:1558-1571.
Table 6. RDH5 mutations causing fundus albipunctatus (cont.).
| Exon/intron | Mutations: Allele 1 | Mutations: Allele 2 | Phenotype | Families | Cases | Reference |
|---|---|---|---|---|---|---|
| Exon 4 | c.712G>T (p.Gly238Trp) | c.712G>T (p.Gly238Trp) | WD, DWD, DWF | 1, 1 | 2, 2, 1 | [7,27,48] |
| Exon 4, 5 | c.718dupG (p.Ala240Glyfs*19) | c.841T>C (p.Tyr281His) | WD, BE, MD | 1, 1 | 1, 1 | [30,41] |
| Exon 5 | c.758T>G (p.Met253Arg) | c.758T>G (p.Met253Arg) | WD, MD | 1 | 5 | This study |
| Exon 5 | c.791T>G (p.Val264Gly) | c.791T>G (p.Val264Gly) | WD | 1 | 3 | [28] |
| Exon 5 | c.824_825del (p.Arg275Profs*60) | c.824_825del (p.Arg275Profs*60) | DWD, DWF, RPED | 1 | 1 | [48] |
| Exon 5 | c.839G>A (p. Arg280His) | c.880G>C (p.Ala294Pro) | WD, MD | 1 | 2 | [27] |
| Exon 5 | c.839G>A (p.Arg280His) | c.928delinsGAAG (p.Leu310delinsEV) | WD | 1, 1, 2 | 1, 1, 2 | [30,37,40,41] |
| Exon 5 | c.841T>C (p.Tyr281His) | c.928delinsGAAG (p.Leu310delinsEV) | WD, MD | 1, 1 | 1, 1 | [34,41] |
| Exon 5 | c.880G>C (p.Ala294Pro) | c.880G>C (p.Ala294Pro) | WD | 1 | 1 | [47] |
| Exon 5 | c.913_917delGTGCT (p.Val305Hisfs*29) | c.913_917delGTGCT (p.Val305Hisfs*29) | WD, MD | 1 | 2 | This study |
| Exon 5 | c.928delinsGAAG (p.Leu310delinsEV) | c.928delinsGAAG (p.Leu310delinsEV) | WD, BE, PP | 1, 4, 1, 1, 4, 6 | 1, 4, 2, 1, 6, 6 | [28,30,31,37,41] |