{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:55:57Z","timestamp":1789512957582,"version":"build-2803163510"},"reference-count":33,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The <jats:italic>FOXG1<\/jats:italic> gene has been recently implicated in the congenital form of Rett syndrome (RTT). It encodes the fork-head box protein G1, a winged-helix transcriptional repressor with expression restricted to testis and brain, where it is critical for forebrain development. So far, only two point mutations in <jats:italic>FOXG1<\/jats:italic> have been reported in females affected by the congenital form of RTT.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aim<\/jats:title>\n                  <jats:p>To assess the involvement of <jats:italic>FOXG1<\/jats:italic> in the molecular aetiology of classical RTT and related disorders.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The entire multi-exon coding sequence of <jats:italic>FOXG1<\/jats:italic> was screened for point mutations and large rearrangements in a cohort of 35 <jats:italic>MECP2\/CDKL5<\/jats:italic> mutation-negative female patients including 31 classical and four congenital forms of RTT.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Two different de novo heterozygous <jats:italic>FOXG1<\/jats:italic>-truncating mutations were identified. The subject with the p.Trp308X mutation presented with a severe RTT-like neurodevelopmental disorder, whereas the p.Tyr400X allele was associated with a classical clinical RTT presentation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>These new cases give additional support to the genetic heterogeneity in RTT and help to delineate the clinical spectrum of the <jats:italic>FOXG1<\/jats:italic>-related phenotypes. <jats:italic>FOXG1<\/jats:italic> screening should be considered in the molecular diagnosis of RTT.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2009.067355","type":"journal-article","created":{"date-parts":[[2009,6,29]],"date-time":"2009-06-29T22:06:09Z","timestamp":1246313169000},"page":"59-65","source":"Crossref","is-referenced-by-count":73,"title":["Phenotypic variability in Rett syndrome associated with <i>FOXG1<\/i> mutations in females"],"prefix":"10.1136","volume":"47","author":[{"given":"C","family":"Philippe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Amsallem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Francannet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Saunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Verneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Jonveaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,6,29]]},"reference":[{"key":"2025101710544798000_47.1.59.1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"2025101710544798000_47.1.59.2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000422"},{"key":"2025101710544798000_47.1.59.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.217"},{"key":"2025101710544798000_47.1.59.4","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/ajmg.a.31133","article-title":"NTNG1 mutations are a rare cause of Rett syndrome","volume":"140","author":"Archer","year":"2006","journal-title":"Am J Med Genet A"},{"key":"2025101710544798000_47.1.59.5","doi-asserted-by":"publisher","DOI":"10.1086\/426460"},{"key":"2025101710544798000_47.1.59.6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn197"},{"key":"2025101710544798000_47.1.59.7","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000326592.37105.88"},{"key":"2025101710544798000_47.1.59.8","doi-asserted-by":"publisher","DOI":"10.1086\/375538"},{"key":"2025101710544798000_47.1.59.9","doi-asserted-by":"crossref","unstructured":"Nemos C Lambert L Giuliano F Doray B Roubertie A Goldenberg A Delobel B Layet V N'Guyen M Saunier A Verneau F Jonveaux P Philippe C . 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