{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:14:32Z","timestamp":1761718472902,"version":"3.37.3"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,4,8]],"date-time":"2016-04-08T00:00:00Z","timestamp":1460073600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:p>Missense <jats:italic><jats:styled-content style=\"fixed-case\">MECP2<\/jats:styled-content><\/jats:italic> variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (<jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content>). In females, the phenotype can also be influenced by the X\u2010inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base\u2010pair substitution affecting Arg309 at the C\u2010terminal end of the transcriptional repression domain (<jats:styled-content style=\"fixed-case\">TRD<\/jats:styled-content>). All patients have intellectual disability and present with some <jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content> features, but they do not fulfill the clinical criteria for typical or atypical <jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content>. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(<jats:styled-content style=\"fixed-case\">Arg309Trp<\/jats:styled-content>) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X\u2010inactivation patterns in target tissues.<\/jats:p>","DOI":"10.1111\/cge.12769","type":"journal-article","created":{"date-parts":[[2016,3,3]],"date-time":"2016-03-03T05:39:47Z","timestamp":1456983587000},"page":"733-738","source":"Crossref","is-referenced-by-count":16,"title":["The <i><scp>MECP2<\/scp><\/i> variant c.<scp>925C<\/scp>&gt;T (p.<scp>Arg309Trp<\/scp>) causes intellectual disability in both males and females without classic features of Rett syndrome"],"prefix":"10.1111","volume":"89","author":[{"given":"B.","family":"Sch\u00f6newolf\u2010Greulich","sequence":"first","affiliation":[{"name":"Center for Rett Syndrome, Kennedy Center, Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet  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