{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T08:28:28Z","timestamp":1770884908385,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,12,24]],"date-time":"2015-12-24T00:00:00Z","timestamp":1450915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Common <jats:italic>FTO<\/jats:italic> variants are associated with obesity. However, it has recently been shown that homozygous <jats:italic>FTO<\/jats:italic> c.947G&gt;A variant, which predicts p.R316Q, and c.956C&gt;T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous <jats:italic>FTO<\/jats:italic> c.965G&gt;A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous <jats:italic>FTO<\/jats:italic> loss\u2010of\u2010function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37515","type":"journal-article","created":{"date-parts":[[2015,12,24]],"date-time":"2015-12-24T11:43:18Z","timestamp":1450957398000},"page":"1023-1028","source":"Crossref","is-referenced-by-count":16,"title":["<i>FTO<\/i> variant associated with malformation syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Luis","family":"Rohena","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics Department of Pediatrics Columbia University Medical Center New York New York"},{"name":"Division of Medical Genetics, Department of Pediatrics San Antonio Military Medical Center San Antonio 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