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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.

Author information

1
Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.
2
Department of Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
3
Unité de Glycobiologie Structurale et Fonctionnelle, UMR/CNRS 8576, IFR147, Université de Sciences et Technologies de Lille, Villeneuve d'Ascq, France.
4
Center for Human Genetics, Campus Gasthuisberg, Leuven, Belgium.
5
Department of Pediatric Neurology and Metabolics, UZ Brussel, Brussels, Belgium.

Abstract

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.

KEYWORDS:

ALG11-CDG; Burst suppression EEG; Neuronal heterotopia

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