Table 4 of
Ajmal, Mol Vis 2012; 18:1558-1571. Table 4 of
Ajmal, Mol Vis 2012; 18:1558-1571.
Table 4. RDH5 mutations causing fundus albipunctatus.
| Exon/Intron | Mutations: Allele 1 | Mutations: Allele 2 | Phenotype | Families | Cases | Reference |
|---|---|---|---|---|---|---|
| Exon 2 | c.55A>G (p.Arg19Gly) | wt | DWD | 1 | 1 | [48] |
| Exon 2, 4 | c.95delT (p.Phe32Serfs*29) | c.712G>T (p.Gly238Trp) | WD, MA | 1 | 1 | [47] |
| Exon 2, 3 | c.98T>A (p.Ile33Asn) | c.469C>T (p.Arg157Trp) | WD | 1 | 1 | [39] |
| Exon 2, 4 | c.98T>C (p.Ile33Thr) | c.712G>T (p.Gly238Trp) | DWD, RPED | 1 | 1 | [48] |
| Exon 2 | c.103G>A (p.Gly35Ser) | c.103G>A (p.Gly35Ser) | WD, CD, BE | 1, 1, 1 | 2, 1, 1 | [30,32,37,46] |
| Exon 2, 5 | c.103G>A (p.Gly35Ser) | c.928delinsGAAG (p.Leu310delinsEV) | WD | 1, 2 | 1, 2 | [30,37,41] |
| Exon 2, 5 | c.124C>T (p.Arg42Cys) | c.928delinsGAAG (p.Leu310delinsEV) | WD | 1 | 1 | [41] |
| Exon 2 | c.129delT (p.Leu44Trpfs*17) | c.129delT (p.Leu44Trpfs*17) | WD | 1 | 1 | [33] |
| Exon 2, 5 | c.211_214dupGTGG (p.Ala72Glyfs*15) | c.801C>G (p.Cys267Trp) | WD | 1 | 1 | [33] |
| Exon 2, 4 | c.218C>T (p.Ser73Phe) | c.712G>T (p.Gly238Trp) | WD | 1 | 1 | [7] |
| Intron 2, 4 | c.310+1G>A (Splice defect) | c.712G>T (p.Gly238Trp) | DWD | 1 | 1 | [48] |
| Exon 3 | c.319G>C (p.Gly107Arg) | c.319G>C (p.Gly107Arg) | WD, MD, SRP | 1, 1 | 2, 1 | [35,40] |
| Exon 3, 5 | c.319G>C (p.Gly107Arg) | c.928delinsGAAG (p.Leu310delinsEV) | WD, BE | 1 | 1 | [30] |