{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T13:10:07Z","timestamp":1745759407671,"version":"3.40.4"},"reference-count":30,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,6,18]]},"abstract":"<jats:p>The<jats:italic>SHANK2<\/jats:italic>gene codes for a protein involved in organising the postsynaptic density and disruptions have been associated with autism spectrum disorders (ASDs). ASDs are frequently comorbid with intellectual disability and anxiety disorders and emerging evidence suggests potentially common aetiologies. Here, we report the case of an 18-year-old man with ASD who presented with severe anorexia due to fear of food contamination, food avoidance and stereotypies attributable to underlying obsessive compulsive disorder (OCD). The patient was found to be heterozygous for c.2518C&gt;T (p.Pro840Ser), a likely damaging coding variant in the proline rich region of<jats:italic>SHANK2<\/jats:italic>. Interestingly, the patient\u2019s disordered eating behaviour began to improve only after high-dose fluoxetine was initiated to target OCD symptoms. Overall, this case highlights the utility of molecular genetic testing in clinical psychiatry and provides an example of how genetic information can inform clinicians in the treatment of complex neuropsychiatric syndromes.<\/jats:p>","DOI":"10.1136\/bcr-2018-225119","type":"journal-article","created":{"date-parts":[[2018,7,10]],"date-time":"2018-07-10T04:05:22Z","timestamp":1531195522000},"page":"bcr-2018-225119","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Eighteen-year-old man with autism, obsessive compulsive disorder and a<i>SHANK2<\/i>variant presents with severe anorexia that responds to high-dose fluoxetine"],"prefix":"10.1136","volume":"2018","author":[{"given":"Zhen A","family":"Lu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiyi","family":"Mu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren M","family":"Osborne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6000-567X","authenticated-orcid":false,"given":"Zachary A","family":"Cordner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,7,9]]},"reference":[{"issue":"1","key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/DBP.0000000000000235","article-title":"Prevalence and characteristics of autism spectrum disorder among 4-year-old children in the autism and developmental disabilities monitoring network","volume":"37","author":"Christensen","year":"2016","journal-title":"J Dev Behav Pediatr"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.psc.2009.11.001"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.3","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-006-0123-0"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.4","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ajmg.b.30561","article-title":"Decomposing the autism phenotype into familial dimensions","volume":"147B","author":"Szatmari","year":"2008","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"11","key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.5","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0141703","article-title":"Obsessive-compulsive disorder and autism spectrum disorders: longitudinal and offspring risk","volume":"10","author":"Meier","year":"2015","journal-title":"PLoS One"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2011.07.003"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2012.02.002"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng.589"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.9","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002521"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.10","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22128"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.11","unstructured":"OMIM (TM). Online Mendelian Inheritance in Man. Baltimore, MD: Johns Hopkins University, 2018. MIM Number: 603290."},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.12","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1242\/jcs.113.11.1851","article-title":"The Shank family of scaffold proteins","volume":"113","author":"Sheng","year":"2000","journal-title":"J Cell Sci"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.13","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80409-2"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.14","doi-asserted-by":"publisher","DOI":"10.1038\/nature11015"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.15","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22084"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.16","doi-asserted-by":"publisher","DOI":"10.1038\/nature11208"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.17","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2013.0143"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.18","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.19","doi-asserted-by":"publisher","DOI":"10.1016\/j.envint.2015.12.021"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.20","doi-asserted-by":"publisher","DOI":"10.1007\/s10567-011-0097-0"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.21","doi-asserted-by":"publisher","DOI":"10.1097\/CHI.0b013e318179964f"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.22","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-006-0215-x"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.23","doi-asserted-by":"publisher","DOI":"10.1038\/nrn.2015.8"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.24","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.07.009"},{"issue":"1","key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.25","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1159\/000339119","article-title":"Neuropsychopathology in 7 patients with the 22q13 deletion syndrome: presence of bipolar disorder and progressive loss of skills","volume":"3","author":"Denayer","year":"2012","journal-title":"Mol Syndromol"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.26","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.164.1.1"},{"issue":"4","key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.27","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1089\/cap.2010.0040","article-title":"Treatment of pediatric obsessive-compulsive disorder: a review","volume":"20","author":"Mancuso","year":"2010","journal-title":"J Child Adolesc Psychopharmacol"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.28","doi-asserted-by":"publisher","DOI":"10.1176\/ajp.155.4.548"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.29","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychires.2004.08.001"},{"key":"2025042705282796000_2018.jul09_1.bcr-2018-225119.30","doi-asserted-by":"publisher","DOI":"10.1001\/jama.295.22.2605"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-225119","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T12:28:35Z","timestamp":1745756915000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-225119"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,9]]},"references-count":30,"alternative-id":["10.1136\/bcr-2018-225119"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-225119","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,7,9]]}}}