{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T04:21:41Z","timestamp":1784953301485,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,9,14]],"date-time":"2015-09-14T00:00:00Z","timestamp":1442188800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institutes of Health, National Institute of Neurologic Disorders and Stroke","award":["K08NS078054"],"award-info":[{"award-number":["K08NS078054"]}]},{"name":"Actelion"},{"name":"NBIA Disorders association and Child Brain Research"},{"name":"Wellcome Trust Intermediate Clinical Fellowship"},{"name":"Rosetrees Trust and Gracious Heart Charity Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>FOXG1<\/jats:italic>\u2010related disorders are caused by heterozygous mutations in <jats:italic>FOXG1<\/jats:italic> and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities. The recurrence risk for de novo mutations in <jats:italic>FOXG1<\/jats:italic>\u2010related disorders is assumed to be low. Here, we describe three unrelated sets of full siblings with mutations in <jats:italic>FOXG1<\/jats:italic> (c.515_577del63, c.460dupG, and c.572T\u2009&gt;\u2009G), representing familial recurrence of the disorder. In one family, we have documented maternal somatic mosaicism for the <jats:italic>FOXG1<\/jats:italic> mutation, and all of the families presumably represent parental gonadal (or germline) mosaicism. To our knowledge, mosaicism has not been previously reported in <jats:italic>FOXG1\u2010<\/jats:italic>related disorders. Therefore, this report provides evidence that germline mosaicism for <jats:italic>FOXG1<\/jats:italic> mutations is a likely explanation for familial recurrence and should be considered during recurrence risk counseling for families of children with <jats:italic>FOXG1<\/jats:italic>\u2010related disorders. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37353","type":"journal-article","created":{"date-parts":[[2015,9,14]],"date-time":"2015-09-14T06:10:10Z","timestamp":1442211010000},"page":"3096-3102","source":"Crossref","is-referenced-by-count":20,"title":["Familial recurrences of <i>FOXG1<\/i>\u2010related disorder: Evidence for mosaicism"],"prefix":"10.1002","volume":"167","author":[{"given":"Kelly Q.","family":"McMahon","sequence":"first","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New 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