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

L Regal; P M van Hasselt; F Foulquier; I Cuppen; Hcmt Prinsen; K Jansen; L Keldermans; L De Meirleir; G Matthijs; J Jaeken

doi:10.1016/j.ymgmr.2014.11.006

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

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

Authors

L Regal¹, P M van Hasselt², F Foulquier³, I Cuppen², Hcmt Prinsen², K Jansen¹, L Keldermans⁴, L De Meirleir⁵, G Matthijs⁴, J Jaeken¹

Affiliations

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.

Publication types

Case Reports