Article
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
Nature genetics - 1 Jul 2016
van Karnebeek Clara D M, Bonafé Luisa, Wen Xiao-Yan, Tarailo-Graovac Maja, Balzano Sara, Royer-Bertrand Beryl, Ashikov Angel, Garavelli Livia, Mammi Isabella, Turolla Licia, Breen Catherine, Donnai Dian, Cormier-Daire Valérie, Heron Delphine, Nishimura Gen, Uchikawa Shinichi, Campos-Xavier Belinda, Rossi Antonio, Hennet Thierry, Brand-Arzamendi Koroboshka, Rozmus Jacob, Harshman Keith, Stevenson Brian J, Girardi Enrico, Superti-Furga Giulio, Dewan Tammie, Collingridge Alissa, Halparin Jessie, Ross Colin J, Van Allen Margot I, Rossi Andrea, Engelke Udo F, Kluijtmans Leo A J, van der Heeft Ed, Renkema Herma, de Brouwer Arjan, Huijben Karin, Zijlstra Fokje, Heise Torben, Boltje Thomas, Wasserman Wyeth W, Rivolta Carlo, Unger Sheila, Lefeber Dirk J, Wevers Ron A, Superti-Furga Andrea
Abstract excerpt
We identified biallelic mutations in NANS, the gene encoding the synthase for N-acetylneuraminic acid (NeuNAc; sialic acid), in nine individuals with infantile-onset severe developmental delay and skeletal dysplasia. Patient body fluids showed an elevation in N-acetyl-D-mannosamine levels, and patient-derived fibroblasts had reduced NANS activity and were unable to incorporate sialic acid precursors into...
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