Table 2.
The Diagnostic Yield of DNM and The Distribution of Identified Hotspot Genes in per IED Subgroup
| Total Trios | Solved Trios by DNM | ||||||
|---|---|---|---|---|---|---|---|
| IED Subgroups | N | Mean Age ± SD | N | Mean Age ± SD | Diagnostic Yield of DNM | Identified Genes (n) | Total >50% (Top Genes) |
| Aniridia | 10 | 7.75 ± 6.15 | 4 | 9.38 ± 8.60 | 40.00% | 1 | 100% (PAX6) |
| MFS/EL | 49 | 9.21 ± 8.56 | 19 | 7.42 ± 5.73 | 38.78% | 1 | 100% (FBN1) |
| RB | 27 | 8.49 ± 8.03 | 10 | 6.43 ± 6.37 | 37.04% | 1 | 100% (RB1) |
| All Syndrome | 25 | 16.57 ± 10.30 | 3 | 27 ± 25.46 | 12.00% | 2 | 66.67% (WFS1) |
| MD | 68 | 28.15 ± 13.77 | 8 | 34.38 ± 16.25 | 11.76% | 4 | 50% (RP1L1) |
| CRD | 29 | 23.18 ± 13.83 | 3 | 24 ± 17 | 10.34% | 1 | 100% (CRX) |
| CD | 11 | 21.55 ± 11.94 | 1 | – | 9.09% | 1 | 100% (CHM) |
| CC | 124 | 6.98 ± 8.02 | 11 | 5.47 ± 5.66 | 8.87% | 7 | 63.63% (CRYBB2, CRYGC, and NHS) |
| RS | 19 | 13.42 ± 10.51 | 1 | – | 5.26% | 1 | 100% (RS1) |
| USH | 25 | 29.95 ± 11.05 | 1 | – | 4.00% | 1 | 100% (PCDH15) |
| RP | 359 | 30.48 ± 12.39 | 14 | 32.21 ± 12.87 | 3.90% | 10 | 50% (RHO, SNRNP200, and CEP290) |
| ST | 57 | 21.18 ± 11.06 | 2 | 17.5 ± 10.61 | 3.51% | 1 | 100% (ABCA4) |
| Best | 33 | 25.97 ± 13.55 | 1 | – | 3.03% | 1 | 100% (BEST1) |
| VRP | 46 | 14.93 ± 11.67 | 1 | – | 2.17% | 1 | 100% (NDP) |
| LCA | 49 | 14.22 ± 12.04 | 1 | – | 2.04% | 1 | 100% (IMPDH1) |
| ONPs | 116 | 17.30 ± 11.27 | 2 | 10 ± 2.83 | 1.72% | 1 | 100% (OPA1) |
| RD | 117 | 21.65 ± 14.08 | 2 | 11 ± 4.24 | 1.71% | 1 | 100% (KIF11) |
| HM | 25 | 21.63 ± 12.46 | – | – | – | – | – |
| Glaucoma | 17 | 23.71 ± 11.10 | – | – | – | – | – |
| Corneal abs | 12 | 21.75 ± 11.14 | – | – | – | – | – |
| Albinism | 7 | 13.93 ± 12.68 | – | – | – | – | – |
| BCD | 18 | 34.22 ± 9.13 | – | – | – | – | – |
| Total Ps | 1243 | 21.49 ± 14.32 | 84 | 16.19 ± 15.21 | 6.76% | 34 | 52.38% (FBN1, RB1, PAX6, RP1L1, RHO, and CRX) |
DNM, De novo mutation; n, number; MFS/EL, Marfan syndrome and ectopia lentis; RB, retinoblastoma; MD, macular dystrophy; CRD, cone-rod dystrophy; CD, choroid dystrophy; CC, congenital cataract; RS, retinoschisis; USH, Usher syndrome; RP, retinitis pigmentosa; ST, Stargardt disease; Best, Bestrophinopathy; VRP, vitreoretinopathy; LCA, Leber congenital amaurosis; OPNs, optic neuropathy; RD, retinal dystrophy; HM, high myopia; Corneal abs, corneal abnormalities; BCD, Bietti crystalline corneoretinal dystrophy; Total Ps, total phenotypes.