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FTO variant associated with malformation syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Rohena, Luis Lawson, Michelle Guzman, Edwin Ganapathi, Mythily Cho, Megan T. Haverfield, Eden Anyane-Yeboa, Kwame
Description	Author Affiliation: Rohena L ( Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.); Lawson M ( Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas.); Guzman E ( Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas.); Ganapathi M ( Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.); Cho MT ( Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York.); Haverfield E ( GeneDx, Gaithersburg, Maryland.); Anyane-Yeboa K ( GeneDx, Gaithersburg, Maryland.)
Abstract	Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>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 FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Journal	American Journal of Medical Genetics Part A
Volume Number	170A
e-ISSN	15524833
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2016-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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