Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

doi:10.1016/j.ajhg.2009.06.002

Article

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

American journal of human genetics - 1 Jul 2009

Boissel Sarah, Reish Orit, Proulx Karine, Kawagoe-Takaki Hiroko, Sedgwick Barbara, Yeo Giles S H, Meyre David, Golzio Christelle, Molinari Florence, Kadhom Noman, Etchevers Heather C, Saudek Vladimir, Farooqi I Sadaf, Froguel Philippe, Lindahl Tomas, O'Rahilly Stephen, Munnich Arnold, Colleaux Laurence

Abstract excerpt

FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been associated with obesity, the physiological role of FTO remains unknown. Here we show that a R316Q mutation, inactivating FTO enzymatic activity, is responsible for an autosomal-recessive lethal syndrome. Cultured skin...

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Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

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