Table 3.

Clinical findings of atypical Rett syndrome patients with MeCP2 mutations

PatientMeCP2 mutationSexX-inactivationClinical findings
391154(del32)MN/ANeonatal apnea, gastroesophageal reflux, hypotonia. Significant developmental delay and microcephaly, died at 21 months of age of respiratory complications
74R306CFRandomHigher cognition with expressive language, ambulatory
96R133HFRandomAutistic behavior, no clear period of regression, some limited hand use, nonverbal, ambulatory, normocephalic
116R306CFSkewedLater onset of hyperventilation and seizures, good hand use, excellent gait, no hand stereotypes
1221160(del26)FNot informativeSome expressive language, ambulatory normocephalic
150T158MFSkewedDevelopmental delay, some preserved language, higher cognition, some preserved hand use, ambulatory
154R294XFRandomSome preserved language, ambulatory, good hand use, normocephalic
180R306CFRandomModerately preserved language, good gait, ambulatory, higher cognition (can perform simple math), and mild hand wringing