Girls with typical/highly suggestive RTT phenotype
| Patient | Age of diagnosis (years) | Age of test (years) | OMS score | Nucleotide change | Amino acid substitution |
|---|---|---|---|---|---|
| Nd, not determined. | |||||
| 1 | 4 | 5 | 8 | 215 ins C | Frameshift |
| 2 | 2 | 20 | 8 | 397 C>T | Arg133Cys |
| 3 | 3 | 36 | 8 | Idem | Idem |
| 4 | 5 | 5 | 8 | Idem | Idem |
| 5 | Nd | 10 | 8 | 403 A>G | Lys135Glu |
| 6 | 3 | 15 | 8 | 473 C>T | Thr158Met |
| 7 | 4 | 11 | 8 | Idem | Idem |
| 8 | Nd | 31 | 8 | Idem | Idem |
| 9 | 3 | 3 | 8 | 502 C>T | Arg168X |
| 10 | 4 | 8 | 8 | Idem | Idem |
| 11 | 3 | 14 | 8 | 763 C>T | Arg255X |
| 12 | Nd | 14 | 8 | 808 C>T | Arg270X |
| 13 | 4 | 4 | 8 | Idem | Idem |
| 14 | 3 | 22 | 8 | Idem | Idem |
| 15 | 3 | 7.5 | 8 | 880 C>T | Arg270X |
| 16 | Nd | 15 | 8 | 916 C>T | Arg306Cys |
| 17 | 6, 5 | 8 | 8 | Idem | Idem |
| 18 | 3 | 3 | 8 | Idem | Idem |
| 19 | 4 | 4 | 8 | 964 G>C | Pro322Ala |
| 20 | Nd | nd | 8 | 1056 del 163 | Frameshift |
| 21 | 2 | 27 | 8 | 1153 del 44 | Frameshift |
| 22 | Nd | 21 | 8 | 1162 Del 30 | Frameshift |
| 23 | 5 | 5 | 8 | 1160 del 21 | |
| 24 | Nd | 15 | 8 | 1194 Ins T | |
| 25 | 2 | 7 | 8 | Complex rearrangement | |
| 26 | Nd | 9 | 8 | No mutation | |
| 27 | 4 | 8.5 | 8 | No mutation | |
| 28 | 4 | 10 | 8 | No mutation | |