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A submicroscopic discontiguous deletion was detected on chromosome Xp11.2 encompassing <jats:italic>FGD1<\/jats:italic>, <jats:italic>FAM120C<\/jats:italic>, and <jats:italic>PHF8<\/jats:italic>. That the deletion encompassed <jats:italic>FGD1<\/jats:italic> (exons 2\u20138) explains the Aarskog features while the deletion of <jats:italic>PHF8<\/jats:italic> most likely explains the cleft palate and mild intellectual disability. We identify <jats:italic>FAM120C<\/jats:italic> as a novel X\u2010linked candidate gene for autism for two reasons: first, a larger deletion encompassing <jats:italic>FAM120C<\/jats:italic> segregates with autism in a previously reported family and second, there is recent evidence that FAM120C interacts with CYFIP1, part of the FMRP (Fragile X Mental Retardation Protein) network. In the current study, resequencing of <jats:italic>FAM120C<\/jats:italic> in 87 Belgian male patients with autism spectrum disorder identified no novel mutations. Expression of <jats:italic>Fam120c<\/jats:italic> in mouse tissues showed enriched expression in pituitary, cerebellum, cortex, and pancreatic islets of Langerhans. Additionally, we found a cortical expression pattern of <jats:italic>Fam120c<\/jats:italic> similar to that of <jats:italic>Fmr1<\/jats:italic>. In conclusion, <jats:italic>FAM120C<\/jats:italic> is a novel candidate gene for autism spectrum disorder based on genetic evidence and the brain expression pattern. Thereby we highlight a role for FMRP network genes in ASD. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36752","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T17:17:58Z","timestamp":1411579078000},"page":"3035-3041","source":"Crossref","is-referenced-by-count":13,"title":["A complex Xp11.22 deletion in a patient with syndromic autism: Exploration of <i>FAM120C<\/i> as a positional candidate gene for autism"],"prefix":"10.1002","volume":"164","author":[{"given":"Veerle","family":"De Wolf","sequence":"first","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven KU Leuven Leuven Belgium"},{"name":"Leuven Autism Research (LAuRes) KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"An","family":"Crepel","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven KU Leuven Leuven Belgium"},{"name":"Leuven Autism 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