Girls with atypical RTT phenotype: patients with mutation
| n | Age of diagnosis (years) | Age of test (years) | Missing necessary criteria | OMS score | Nucleotide change | Amino acid substitution |
|---|---|---|---|---|---|---|
| 1 | 2 | 6 | 5, 7, 8 | 5 | 397 C>T | Arg133Cys |
| 2 | 4 | 4 | 4 | 7 | Idem | Idem |
| 3 | 2 | 6 | 4 | 7 | 422 A>G | Tyr141Cys |
| 4 | 3 | 3 | 5 | 7 | 455 C>T | Pro152Arg |
| 5 | 3 | 6 | 5 | 7 | 452 A>G | Asp151Gly |
| 6 | Nd | 16 | 8 | 7 | 473 C> T | Thr158Met |
| 7 | 5 | 5 | 6, 8 | 6 | Idem | Idem |
| 8 | 2 | 2 | 4, 8 | 6 | Idem | Idem |
| 9 | Nd | 14 | 5 | 5 | Idem | Idem |
| 10 | 4 | 4 | 5, 8 | 6 | Idem | Idem |
| 11 | 2 | 10 | 8 | 6 | 502 C>T | Arg168X |
| 12 | Nd | 11 | 4 | 7 | 763 C>T | Arg255X |
| 13 | 5 | 5 | 5, 8 | 6 | Idem | Idem |
| 14 | 2 | 2 | 5, 8 | 6 | Idem | Idem |
| 15 | Nd | 9 | 8 | 6 | 807 del C | Frameshift |
| 16 | Nd | 9 | 8 | 7 | 808 C>T | Arg270X |
| 17 | 3 | 8 | 5, 7 | 6 | 880 C>T | Arg294X |
| 18 | 2 | 6 | 4 | 6 | 1156 Del 41 | Frameshift |
| 19 | Nd | 14 | 4 | 7 | 1156 Del 41 | Frameshift |
| 20 | 4 | 4 | 4 | 7 | 1157 Del 32 | Frameshift |
| 21 | 2 | 6 | 4, 5 | 6 | IVS3,−2A>G | Frameshift |
| 22 | 3 | 3 | 4, 7, 8 | 5 | Complex rearrangement | |
| 23 | 3 | 3 | 4, 5, 8 | 6 | Complex rearrangement | |
| 24 | 2 | 2 | 5, 8 | 6 | Del exons 2–3 |