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Because the <jats:italic>MECP2<\/jats:italic> gene is subject to X chromosome inactivation (XCI) in females, a number of studies have addressed whether the percentage of cells inactivating the normal vs. mutant chromosome in heterozygous females influences the phenotypic outcome of <jats:italic>MECP2<\/jats:italic> mutations. Because most of these studies measured XCI in peripheral blood, however, interpretation of the results requires the assumption that XCI patterns in blood are representative of those in the brain, the primarily affected tissue. Here, we have analyzed the <jats:italic>MECP2<\/jats:italic> sequence and XCI status in 13 brains of RTT patients. Mutations were identified in nine of the cases, with eight of these representing C to T transitions at CpG dinucleotides, and one being a novel frameshift mutation (765delA). Patterns of XCI were balanced in 10 of 10 cases for which the assay was informative. As previous studies have shown that a majority of RTT patients have balanced XCI patterns in peripheral blood, our results suggest that the pattern in blood is an accurate indicator of XCI patterns in the brain for a majority of cases, but there are some notable exceptions that this study may help explain. Given the correlation between balanced XCI and classic RTT, these results suggest that a certain percentage of neurons expressing the mutant <jats:italic>MECP2<\/jats:italic> gene may be required for RTT to become manifest. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10557","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:56:23Z","timestamp":1033905383000},"page":"164-168","source":"Crossref","is-referenced-by-count":63,"title":["Balanced X chromosome inactivation patterns in the Rett syndrome brain"],"prefix":"10.1002","volume":"111","author":[{"given":"Mona D.","family":"Shahbazian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaling","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huda 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