Table 3. Single heterozygous variants identified in arRP patients.
| Proband | Sex | Age | Onset | BCVA | SLC7A14 mutation | Prediction | Mutation in known genes |
|---|---|---|---|---|---|---|---|
| W24-1 | M | 1 | 1 | ND | c.988G>A (p.G330R) hetero | deleterious | Excluded by TES |
| W52-1 | M | 20 | 15 | 0.2/0.15 | c.2083C>T (p.R695C) hetero | deleterious | TES identified a RP1 mutation* |
| W100-1 | M | 4 | 2 | 0.12/0.8 | c.988G>A (p.G330R) hetero | deleterious | Excluded by TES |
| W123-1 | M | 16 | 12 | 0.6/0.8 | c.1391G>T (p.C464F) hetero | deleterious | Excluded by TES |
| W228-1 | M | 38 | 15 | 0.15/0.15 | c.988G>A (p.G330R) hetero | deleterious | Excluded by TES |
| W302-1 | M | 34 | 15 | 0.12/0.2 | c.1172C>T (p.S391L) hetero | deleterious | Excluded by TES |
| Z1-1 | M | 36 | 20 | 0.1/0.15 | c.969G>T (p.M323I) hetero | deleterious | Excluded by TES |
| Z2-1 | F | 30 | 18 | 0.2/0.3 | c.626A>G (p.N209S) hetero | deleterious | Excluded by TES |
| F16-1 | F | 29 | 16 | 0.04/0.8 | c.988G>A (p.G330R) hetero | deleterious | Excluded by TES |
| F52-1 | F | 59 | 30 | 0.02/0.1 | c.1391G>T (p.C464F) hetero | deleterious | TES identified a BEST1 mutation† |
| F98-1 | M | 47 | 30 | 0.8/0.8 | c.988G>A (p.G330R) hetero | deleterious | Excluded by TES |
| F107-1 | M | 36 | 10 | 0.1/0.08 | c.988G>A (p.G330R) hetero | deleterious | TES identified EYS mutations‡ |
BCVA, best corrected visual acuity; F, female; HM, hand motion; M, male; ND, not determined; NLP, no light perception; TES, targeted exome sequencing.
*indicates c.3469_3476del8bp mutation in RP1 gene.
†indicates c.1589G>A (p.C530Y) mutation in BEST1 gene.
‡indicates c.6416G>A (p.C2139Y) and c.7679C>T (p.P2560L) mutations in EYS gene.