{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:16:05Z","timestamp":1790864165697,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,4,10]],"date-time":"2007-04-10T00:00:00Z","timestamp":1176163200000},"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 B"],"published-print":{"date-parts":[[2007,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the coding sequence of the methyl\u2010CpG\u2010binding protein 2 gene (<jats:italic>MECP2<\/jats:italic>), which cause Rett syndrome (RTT), have been found in male and female autistic subjects without, however, a causal relation having unequivocally been established. In this study, the <jats:italic>MECP2<\/jats:italic> gene was scanned in a Portuguese autistic population, hypothesizing that the phenotypic spectrum of mutations extends beyond the traditional diagnosis of RTT and X\u2010linked mental retardation, leading to a non\u2010lethal phenotype in male autistic patients. The coding region, exon\u2013intron boundaries, and the whole 3\u2032UTR were scanned in 172 patients and 143 controls, by <jats:italic>Detection of Virtually All Mutations\u2010SSCP<\/jats:italic> (DOVAM\u2010S). Exon 1 was sequenced in 103 patients. We report 15 novel variants, not found in controls: one missense, two intronic, and 12 in the 3\u2032UTR (seven in conserved nucleotides). The novel missense change, c.617G\u2009&gt;\u2009C (p.G206A), was present in one autistic male with severe mental retardation and absence of language, and segregates in his maternal family. This change is located in a highly conserved residue within a region involved in an alternative transcriptional repression pathway, and likely alters the secondary structure of the MeCP2 protein. It is therefore plausible that it leads to a functional modification of MeCP2. <jats:italic>MECP2<\/jats:italic> mRNA levels measured in four patients with 3\u2032UTR conserved changes were below the control range, suggesting an alteration in the stability of the transcripts. Our results suggest that <jats:italic>MECP2<\/jats:italic> can play a role in autism etiology, although very rarely, supporting the notion that <jats:italic>MECP2<\/jats:italic> mutations underlie several neurodevelopmental disorders. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30490","type":"journal-article","created":{"date-parts":[[2007,4,10]],"date-time":"2007-04-10T18:51:10Z","timestamp":1176231070000},"page":"475-483","source":"Crossref","is-referenced-by-count":52,"title":["<i>MECP2<\/i> coding sequence and 3\u2032UTR variation in 172 unrelated autistic patients"],"prefix":"10.1002","volume":"144B","author":[{"given":"Ana 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