Table 4.

Rett syndrome (RTT) patients with skewed X-inactivation

PatientMeCP2 mutationMt GroupX-inactivationDiagnosis
35R270X392:8; 90:10Classical RTT
111R270X388:12; 86:14Classical RTT
116R306C486:14Atypical RTT
1261160(del26)592:8Classical RTT
132S204X286:14; 88:12Classical RTT
150T158M192:8; 94:6Atypical RTT