{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T17:41:19Z","timestamp":1781804479401,"version":"3.54.5"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,3,1]],"date-time":"2012-03-01T00:00:00Z","timestamp":1330560000000},"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":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The systematic screening of Rett syndrome (RTT) patients for pathogenetic sequence variations has focused on three genes that have been associated with RTT or related clinical phenotypes, namely <jats:italic>MECP2<\/jats:italic>, <jats:italic>CDKL5<\/jats:italic>, and <jats:italic>FOXG1<\/jats:italic>. More recently, it has been suggested that phenotypes associated with <jats:italic>TCF4<\/jats:italic> and <jats:italic>MEF2C<\/jats:italic> mutations may represent a form of RTT.<\/jats:p><jats:p>Here we report on the screening of the <jats:italic>TCF4<\/jats:italic> and <jats:italic>MEF2C<\/jats:italic> genes in a cohort of 81 classical, atypical, and incomplete atypical RTT patients harboring no known mutations in <jats:italic>MECP2<\/jats:italic>, <jats:italic>CDKL5<\/jats:italic>, and <jats:italic>FOXG1<\/jats:italic> genes. No pathogenetic sequence variations were identified in the <jats:italic>MEF2C<\/jats:italic> gene in our cohort. However, a frameshift mutation in <jats:italic>TCF4<\/jats:italic> was identified in a patient with a clinical diagnosis of \u201cvariant\u201d RTT, in whom the clinical evolution later raised the possibility of Pitt\u2013Hopkins syndrome. Although our results suggest that these genes are not commonly associated with RTT, we note the clinical similarity between RTT and Pitt\u2013Hopkins syndrome, and suggest that RTT patients with no mutation identified in <jats:italic>MECP2<\/jats:italic> be considered for molecular screening of the <jats:italic>TCF4<\/jats:italic> gene. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34206","type":"journal-article","created":{"date-parts":[[2012,3,2]],"date-time":"2012-03-02T02:40:42Z","timestamp":1330656042000},"page":"713-719","source":"Crossref","is-referenced-by-count":21,"title":["Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett 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