{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T12:45:42Z","timestamp":1759063542194,"version":"3.40.4"},"reference-count":20,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2012]]},"abstract":"Rett syndrome is a well-defined neurodevelopmental disorder comprising characteristic clinical features of gait abnormalities, loss of purposeful hand movements, stereotypies, and autistic features. Mutations in the <i>FOXG1<\/i> gene have been associated with a congenital variant of Rett syndrome. This is a report on the outcome of routine genetic testing to identify <i>FOXG1<\/i> mutations in a patient population presenting with features of the <i>FOXG1<\/i> syndrome, an entity thought to be distinct, but similar, to the congenital variant of Rett syndrome. We performed PCR and sequencing analysis of <i>FOXG1<\/i> in <i>MECP2<\/i>-negative patients (n = 12) with phenotypic features of <i>FOXG1<\/i> syndrome. <i>FOXG1<\/i> MLPA analysis was also carried out. No mutations in <i>FOXG1<\/i> were identified using this approach. We were unable to identify patients with features of the <i>FOXG1<\/i> syndrome as having aberrant <i>FOXG1<\/i> gene loci. Clinical notes are inherently subjective and may lack sufficient detail to reliably identify those with a syndromal spectrum. The results call into question the objectivity of outlining a complex syndrome according to clinical manifestations and highlight the need for a greater involvement of molecular diagnostic techniques in the diagnosis of Rett-like disorders.<\/jats:p>","DOI":"10.1159\/000345845","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T14:33:50Z","timestamp":1355409230000},"page":"284-287","source":"Crossref","is-referenced-by-count":15,"title":["Genotyping <b><i>FOXG1<\/i><\/b> Mutations in Patients with Clinical Evidence of the <b><i>FOXG1<\/i><\/b> Syndrome"],"prefix":"10.1159","volume":"3","author":[{"given":"D.W.","family":"Pratt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.V.","family":"Warner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.G.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,12,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2008.05.015"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawn197"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10048-009-0220-2"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1177%2F08830738030180100901"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1177%2F088307389801300907"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2F0887-8994%2894%2990082-5"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2010.087528"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jpeds.2005.10.037"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10048-010-0255-4"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3174%2Fajnr.A1792"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ddmec.2005.11.001"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.yhbeh.2010.05.014"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038%2Fnrneurol.2011.64"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.22124"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2009.067355"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1177%2F0883073810374125"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1242%2Fdev.044909"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2011.01819.x"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007%2Fs12519-009-0037-y"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2004.027730"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/345845","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/345845","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:39:48Z","timestamp":1745433588000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000345845"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":20,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2013,1,1]]},"published-print":{"date-parts":[[2013,1,30]]}},"URL":"https:\/\/doi.org\/10.1159\/000345845","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2012]]}}}