{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T18:07:27Z","timestamp":1763662047004,"version":"3.41.2"},"reference-count":12,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p> The fat mass and obesity-associated gene ( FTO) codes for a DNA\/RNA demethylase. Pathological variants in this gene are rare, with only three reports in the literature, all with mutations in the catalytic domain. We report the first biallelic human variant in fat mass and obesity-associated gene (c.287G&gt;C, p.Arg96Pro\/R96P) outside the catalytic site, causing numerous abnormalities across multiple organ systems, affecting respiratory, cardiovascular, and neurological function. Biochemical assays of cells with the patient\u2019s variant were performed to further quantify the effect of the variant on function. Loss-of-function resulting from the patient\u2019s R96P missense variant was demonstrated with in vitro biochemical characterization of demethylase activity, resulting in a 90% reduction in function of the fat mass and obesity-associated protein compared to wild-type. Our findings demonstrate a novel fat mass and obesity-associated gene non-catalytic site variant with a unique patient phenotype of bilateral multifocal epilepsy and multisystem congenital anomalies. <\/jats:p>","DOI":"10.1177\/2050313x231188883","type":"journal-article","created":{"date-parts":[[2023,7,29]],"date-time":"2023-07-29T08:31:55Z","timestamp":1690619515000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Case report: A novel biallelic <i>FTO<\/i> variant causing multisystem anomalies with severe epilepsy, widening the spectrum of <i>FTO<\/i> syndrome"],"prefix":"10.1177","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7666-3431","authenticated-orcid":false,"given":"Naomi","family":"Mayman","sequence":"first","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiangbo","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Chemistry, University of Chicago, IL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shangjun","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Chemistry, University of Chicago, IL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rohan","family":"Soman","sequence":"additional","affiliation":[{"name":"Weill Cornell\/Rockefeller\/Sloan Kettering MD\/PhD Tri-institutional Program, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hillary","family":"Raynes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mount Sinai, New York, NY, USA"},{"name":"Department of Neurology, Mount Sinai, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maite","family":"La Vega-Talbott","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mount Sinai, New York, NY, USA"},{"name":"Department of Neurology, Mount Sinai, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuan","family":"He","sequence":"additional","affiliation":[{"name":"Department of Chemistry, University of Chicago, IL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Naidich","sequence":"additional","affiliation":[{"name":"Department of Radiology, Mount Sinai, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Praveen","family":"Raju","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai, New York, NY, USA"},{"name":"Department of Pediatrics, Mount Sinai, New York, NY, USA"},{"name":"Department of Neurology, Mount Sinai, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sathiji","family":"Kathiresu Nageshwaran","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mount Sinai, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,7,29]]},"reference":[{"key":"bibr1-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1038\/nchembio.687"},{"key":"bibr2-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1502214"},{"key":"bibr3-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1820574116"},{"key":"bibr4-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1038\/nature08921"},{"key":"bibr5-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.002"},{"key":"bibr6-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103399"},{"key":"bibr7-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37515"},{"key":"bibr8-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1126\/science.aay5947"},{"key":"bibr9-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2018.08.011"},{"key":"bibr10-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.2337\/db09-0703"},{"key":"bibr11-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0014005"},{"key":"bibr12-2050313X231188883","doi-asserted-by":"publisher","DOI":"10.4161\/epi.21977"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X231188883","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X231188883","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X231188883","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T09:20:09Z","timestamp":1740993609000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X231188883"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":12,"alternative-id":["10.1177\/2050313X231188883"],"URL":"https:\/\/doi.org\/10.1177\/2050313x231188883","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"type":"print","value":"2050-313X"},{"type":"electronic","value":"2050-313X"}],"subject":[],"published":{"date-parts":[[2023,1]]},"article-number":"2050313X231188883"}}