Article
MAN1B1 deficiency: an unexpected CDG-II.
PLoS genetics - 1 Jan 2013
Rymen Daisy, Peanne Romain, Millón María B, Race Valérie, Sturiale Luisa, Garozzo Domenico, Mills Philippa, Clayton Peter, Asteggiano Carla G, Quelhas Dulce, Cansu Ali, Martins Esmeralda, Nassogne Marie-Cécile, Gonçalves-Rocha Miguel, Topaloglu Haluk, Jaeken Jaak, Foulquier François, Matthijs Gert
Abstract excerpt
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient. Subsequently, 6 additional cases with MAN1B1-CDG were found. All individuals presented slight facial dysmorphism, psychomotor retardation and truncal obesity....
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