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We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. We identified 23 different disease-causing MECP2 mutations in 54 of 71 (76%) sporadic patients and in 2 of 7 (29%) familial cases. We compared electrophysiological(More)
R ett syndrome (RTT; MIM 312750) is a neurodevelop-mental disorder with an onset in early childhood that affects 1/10 000–1/15 000 females. After a period of relatively normal development, girls with RTT present with developmental arrest, usually by 12–18 months of age, followed by rapid deterioration with regression of speech and purposeful hand movements.(More)
Most girls with Rett syndrome develop normally prior to the appearance of the typical symptoms. A presymptomatic phase is also observed in many inborn errors of metabolism that are included in newborn screening programs. Diagnostic testing for mutations or large genomic rearrangements involving methyl-CpG binding protein 2 gene (MECP2) is highly sensitive(More)
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