Table 1.
Proportion of patients per mutation with a skewed XCI pattern according to at least one of the two techniques used for assessing XCI (XCI-AR and XCI-AS).
| Mutation | Type of mutation | MeCP2 region | Number of patients with skewed XCI | % of patients with skewed XCI |
|---|---|---|---|---|
| c.455C > G (p.P152R) | Missense | MBD | 0/6 | 0% |
| c.473C > T (p.T158M) | Missense | MBD | 0/33 | 0% |
| c.502C > T (p.R168X) | Nonsense | IDR | 5/29 | 17.2% |
| c.674C > G (p.P255R) | Missense | TRD | 0/2 | 0% |
| c.763C > T (p.R255X) | Nonsense | TRD | 4/36 | 11.1% |
| c.806delG (p.G269fs) | Frameshift | TRD-NLS | 1/11 | 9.1% |
| c.808C > T (p.R270X) | Nonsense | TRD-NLS | 4/20 | 20% |
| c.880C > T (p.R294X) | Nonsense | TRD | 1/20 | 5% |
| c.916C > T (p.R306C) | Missense | TRD | 1/15 | 6.7% |
| Large deletions | Deletion | Exons 3-4 | 1/2 | 50% |
| All | — | — | 17/174 | 9.8% |