{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T23:01:05Z","timestamp":1726268465130},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,6,3]],"date-time":"2003-06-03T00:00:00Z","timestamp":1054598400000},"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":[[2003,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rett syndrome is caused by mutation in <jats:italic>MECP2<\/jats:italic>, a gene located on Xq28 and subject to X\u2010inactivation. <jats:italic>MECP2<\/jats:italic> encodes methyl CpG\u2010binding protein 2, a widely expressed transcriptional repressor of methylated DNA. Mutations in <jats:italic>MECP2<\/jats:italic> are primarily de novo events in the male germ line and thus lead to an excess of affected females. Here we report the identification of a unique 47,XXX girl with relatively mild atypical Rett syndrome leading initially to a diagnosis of infantile autism with regression. Mutation analysis of the <jats:italic>MECP2<\/jats:italic> gene identified a de novo <jats:italic>MECP2<\/jats:italic> mutation, L100V. Examination of a panel of X\u2010linked microsatellite markers indicated that her supernumerary X chromosome is maternally derived. X\u2010inactivation patterns were determined by analysis of methylation of the androgen receptor locus, and indicated preferential inactivation of her paternal allele. The parental origin of her <jats:italic>MECP2<\/jats:italic> mutation could not be determined because she was uninformative for intronic polymorphisms flanking her mutation. This is the first reported case of sex chromosome trisomy and <jats:italic>MECP2<\/jats:italic> mutation in a female, and it illustrates the importance of allele dosage on the severity of Rett syndrome phenotype. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20320","type":"journal-article","created":{"date-parts":[[2003,9,5]],"date-time":"2003-09-05T14:43:14Z","timestamp":1062772994000},"page":"223-226","source":"Crossref","is-referenced-by-count":9,"title":["Rett syndrome in a 47,XXX patient with a de novo <i>MECP2<\/i> mutation"],"prefix":"10.1002","volume":"122A","author":[{"given":"Sara","family":"Hammer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naghmeh","family":"Dorrani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaana","family":"Hartiala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart","family":"Stein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. 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