Article
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Nature genetics - 1 Jul 2005
Vogt Guillaume, Chapgier Ariane, Yang Kun, Chuzhanova Nadia, Feinberg Jacqueline, Fieschi Claire, Boisson-Dupuis Stéphanie, Alcais Alexandre, Filipe-Santos Orchidée, Bustamante Jacinta, de Beaucoudrey Ludovic, Al-Mohsen Ibrahim, Al-Hajjar Sami, Al-Ghonaium Abdulaziz, Adimi Parisa, Mirsaeidi Mehdi, Khalilzadeh Soheila, Rosenzweig Sergio, de la Calle Martin Oscar, Bauer Thomas R, Puck Jennifer M, Ochs Hans D, Furthner Dieter, Engelhorn Carolin, Belohradsky Bernd, Mansouri Davood, Holland Steven M, Schreiber Robert D, Abel Laurent, Cooper David N, Soudais Claire, Casanova Jean-Laurent
Abstract excerpt
Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNgammaR2 chain. The resulting additional carbohydrate...
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