Table 1 Results of MECP2 analysis in 337 female patients with RTT from the Cardiff study group.
Classic RTT (n = 1880) | Atypical RTT (n = 123) | Not classified (n = 26) | ||||
---|---|---|---|---|---|---|
MECP2 mutation* | 143 | 58 | 26 | |||
Dosage assay results | ||||||
Deletion | 14 | 4 | ||||
Normal | 23 | 49 | ||||
Fail/insufficient DNA | 8 | 12 |
*Identified by sequencing.