Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue American Journal of Human Genetics Année : 2009

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Orit Reish
  • Fonction : Auteur
Karine Proulx
  • Fonction : Auteur
Hiroko Kawagoe-Takaki
  • Fonction : Auteur
Barbara Sedgwick
  • Fonction : Auteur
Giles S H Yeo
Florence Molinari
Vladimir Saudek
  • Fonction : Auteur
I. Sadaf Sadaf Farooqi
  • Fonction : Auteur
Stephen O'Rahilly
Laurence Colleaux

Résumé

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 fibroblasts from affected subjects showed impaired proliferation and accelerated senescence. These findings indicate that FTO is essential for normal development of the central nervous and cardiovascular systems in human and establish that a mutation in a human member of the AlkB-related dioxygenase family results in a severe polymalformation syndrome.
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Dates et versions

hal-02044723 , version 1 (21-02-2019)

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Sarah Boissel, Orit Reish, Karine Proulx, Hiroko Kawagoe-Takaki, Barbara Sedgwick, et al.. Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations. American Journal of Human Genetics, 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩. ⟨hal-02044723⟩
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