A complex Xp11.22 deletion in a patient with syndromic autism: Exploration of FAM120C as a positional candidate gene for autism. Issue 12 (24th September 2014)

• Record Type: Journal Article
• Authors: De Wolf, Veerle; Crepel, An; Schuit, Frans; van Lommel, Leentje; Ceulemans, Berten; Steyaert, Jean; Seuntjens, Eve; Peeters, Hilde; Devriendt, Koen
• Is Part Of: American journal of medical genetics. Volume 164:Issue 12(2014.)
• Page Start: 3035
• Page End: 3041
• Publication Date: 2014-09-24
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36752
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36752-sec-0001" sec-type="section"> <p>We present a male patient with sporadic Aarskog syndrome, cleft palate, mild intellectual disability, and autism spectrum disorder (ASD). A submicroscopic discontiguous deletion was detected on chromosome Xp11.2 encompassing <italic>FGD1</italic>, <italic>FAM120C</italic>, and <italic>PHF8</italic>. That the deletion encompassed <italic>FGD1</italic> (exons 2–8) explains the Aarskog features while the deletion of <italic>PHF8</italic> most likely explains the cleft palate and mild intellectual disability. We identify <italic>FAM120C</italic> as a novel X‐linked candidate gene for autism for two reasons: first, a larger deletion encompassing <italic>FAM120C</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 <italic>FAM120C</italic> in 87 Belgian male patients with autism spectrum disorder identified no novel mutations. Expression of <italic>Fam120c</italic> in mouse tissues showed enriched expression in pituitary, cerebellum, cortex, and pancreatic islets of Langerhans. Additionally, we found a cortical expression pattern of <italic>Fam120c</italic> similar to that of <italic>Fmr1</italic>. In conclusion, <italic>FAM120C</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. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>