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Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar.

ALG11-CDG: Three novel mutations and further characterization of the phenotype.

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Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.
Department of Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
Unité de Glycobiologie Structurale et Fonctionnelle, UMR/CNRS 8576, IFR147, Université de Sciences et Technologies de Lille, Villeneuve d'Ascq, France.
Center for Human Genetics, Campus Gasthuisberg, Leuven, Belgium.
Department of Pediatric Neurology and Metabolics, UZ Brussel, Brussels, Belgium.


We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in one of them, neuronal heterotopia, and early lethality. Analysis of ALG11 revealed compound heterozygosity involving three novel mutations: the splice site mutation c.45-2A > T, the c.36dupG duplication, and the missense mutation c.479G > T (p.G160V) that was present in both.


ALG11-CDG; Burst suppression EEG; Neuronal heterotopia

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