Table 3.
Most frequent mutated genes in molecular diagnosis cases excluding deletions/duplications cases (n = 1368) among the different disorders and ordered by frequency. Only mutated genes observed 10 or more times or the five most mutated genes (if found more than once) among the different disorders are shown.
| Group of disorders | N | % |
|---|---|---|
| Ophthalmological disorders | 821 | 60.01 |
| ABCA4 | 137 | 16.69 |
| USH2A | 84 | 10.23 |
| BEST1 | 31 | 3.78 |
| OPA1 | 29 | 3.53 |
| PRPH2 | 27 | 3.29 |
| CRB1 | 21 | 2.56 |
| PAX6 | 19 | 2.31 |
| CNGB3 | 17 | 2.07 |
| EYS | 17 | 2.07 |
| RHO | 16 | 1.95 |
| NR2E3 | 15 | 1.83 |
| RPGR | 15 | 1.83 |
| PRPF31 | 14 | 1.71 |
| MYO7A | 13 | 1.58 |
| RS1 | 12 | 1.46 |
| CHM | 11 | 1.34 |
| CRX | 10 | 1.22 |
| PROM1 | 10 | 1.22 |
| BBS1 | 10 | 1.22 |
| SNRNP200 | 10 | 1.22 |
| TGFBI | 10 | 1.22 |
| Neurological disorders | 235 | 17.18 |
| ANKRD11 | 9 | 3.83 |
| CLCN1 | 7 | 2.98 |
| NOTCH3 | 6 | 2.55 |
| MECP2 | 6 | 2.55 |
| KRIT1 | 5 | 2.13 |
| SCN1A | 5 | 2.13 |
| Others or Miscellanea group | 72 | 5.26 |
| ATP7B | 5 | 6.94 |
| HMBS | 4 | 5.56 |
| ACVRL1 | 4 | 5.56 |
| NF1 | 3 | 4.17 |
| ENG | 3 | 4.17 |
| Cardiological disorders | 61 | 4.46 |
| MYBPC3 | 10 | 16.39 |
| TTN | 8 | 13.11 |
| MYH7 | 5 | 8.20 |
| DSP | 3 | 4.92 |
| FBN1 | 3 | 4.92 |
| Endocrinological disorders | 45 | 3.29 |
| GCK | 11 | 24.44 |
| HNF1A | 6 | 13.33 |
| FGFR1 | 3 | 6.67 |
| AR | 3 | 6.67 |
| PDX1 | 2 | 4.44 |
| SPRY4 | 2 | 4.44 |
| HNF4A | 2 | 4.44 |
| Kidney disorders | 37 | 2.70 |
| COL4A4 | 10 | 27.03 |
| COL4A3 | 8 | 21.62 |
| PKHD1 | 2 | 5.41 |
| HNF1B | 2 | 5.41 |
| Hearing impairment | 33 | 2.41 |
| MYO7A | 5 | 15.15 |
| GJB2 | 4 | 12.12 |
| MYO6 | 3 | 9.09 |
| COL4A3 | 2 | 6.06 |
| TECTA | 2 | 6.06 |
| Familial Hypercholesterolemia | 27 | 1.97 |
| LDLR | 25 | 92.59 |
| Skeletal dysplasia | 25 | 1.83 |
| COL2A1 | 5 | 20.00 |
| COL1A1 | 4 | 16.00 |
| SHOX | 2 | 8.00 |
| Cystic Fibrosis | 12 | 0.88 |
| CFTR | 12 | 100.00 |
| Total | 1368 | 100.00 |