{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:39:54Z","timestamp":1770824394646,"version":"3.50.1"},"reference-count":61,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,11,25]],"date-time":"2002-11-25T00:00:00Z","timestamp":1038182400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rett syndrome (RTT) is a clinically defined disorder that describes a subset of patients with mutations in the X\u2010linked<jats:italic>MECP2<\/jats:italic>gene. However, there is a high degree of variability in the clinical phenotypes produced by mutations in<jats:italic>MECP2<\/jats:italic>, even amongst classical RTT patients. In a large\u2010scale screening project, this variability has been examined by looking at the effects of mutation type, functional domain affected and X\u2010inactivation. Mutations have been identified in 60% of RTT patients in this study (25% of whom were atypical), including 23 novel mutations and polymorphisms. More mutations were found in classical patients (63%) compared to atypical patients (44%). All of the pathogenic mutations were de novo in patients for whom parent DNA was available for screening. A composite phenotype score was developed, based on the recommendations for reporting clinical features in RTT of an international collaborative group. This score proved useful for summarising phenotypic severity, but did not correlate with mutation type, domain affected or X\u2010inactivation, probably due to complex interactions between all three. Other correlations suggested that truncating mutations and mutations affecting the methyl\u2010CpG\u2010binding domain tend to lead to a more severe phenotype. Skewed X\u2010inactivation was found in a large proportion (43%) of our patients, particularly in those with truncating mutations and mutations affecting the MBD. It is therefore likely that X\u2010inactivation does modulate the phenotype in RTT. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10053","type":"journal-article","created":{"date-parts":[[2003,3,20]],"date-time":"2003-03-20T12:00:08Z","timestamp":1048161608000},"page":"103-114","source":"Crossref","is-referenced-by-count":98,"title":["Effects of<i>MECP2<\/i>mutation type, location and X\u2010inactivation in modulating Rett syndrome phenotype"],"prefix":"10.1002","volume":"118A","author":[{"given":"Linda S.","family":"Weaving","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah 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