{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:48:07Z","timestamp":1764172087893},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"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":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>\u201c<jats:italic>FOXG1<\/jats:italic> syndrome\u201d includes postnatal microcephaly, severe intellectual disability with absence of language and agenesis of the corpus callosum. When the syndrome is associated with large 14q12q13 deletions, the patients present characteristic facial dysmorphism. Although all reports were based on genomic analysis, recently a <jats:italic>FOXG1<\/jats:italic> regulatory elements deletion, associated with down regulated mRNA, suggested an implication of <jats:italic>FOXG1<\/jats:italic> pathway. Herein, we report on a young boy with a phenotype consistent with a <jats:italic>FOXG1<\/jats:italic> syndrome. He had a de novo translocation t(6;14)(q22.1;q12) associated with a heterozygous 14q12.2q13 deletion encompassing <jats:italic>FOXG1<\/jats:italic>. Subsequently, we investigated his transcriptomic profile on lymphoblasto\u00efd cell lines and\/or fibroblasts and showed that <jats:italic>FOXG1<\/jats:italic> was commonly down\u2010regulated. Moreover, several other <jats:italic>FOXG1<\/jats:italic> pathway genes were also disturbed. Our data and review of previous reports highlight dysregulation of <jats:italic>FOXG1<\/jats:italic> pathway as the cause of the \u201c<jats:italic>FOXG1<\/jats:italic> syndrome\u201d developmental disorder. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36170","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:32:59Z","timestamp":1376674379000},"page":"3072-3077","source":"Crossref","is-referenced-by-count":10,"title":["Dysregulation of <i>FOXG1<\/i> pathway in a 14q12 microdeletion case"],"prefix":"10.1002","volume":"161","author":[{"given":"Olivier","family":"Perche","sequence":"first","affiliation":[{"name":"UMR7355 CNRS Orleans France"},{"name":"Experimental and Molecular Immunology and Neurogenetics University of Orleans Orleans France"},{"name":"Genetic Department Regional Hospital Orleans 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