Title :

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

Author(s) :

Regal, L. [Auteur]
van Hasselt, Peter M. [Auteur]
Foulquier, Francois [Auteur]
Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 [UGSF]
Cuppen, I. [Auteur]
Prinsen, Hcmt [Auteur]
Jansen, K. [Auteur]
Keldermans, L. [Auteur]
De Meirleir, L. [Auteur]
Matthijs, Gert [Auteur]
Jaeken, Jaak [Auteur]

Journal title :

Molecular Genetics and Metabolism Reports

Abbreviated title :

Mol Genet Metab Rep

Volume number :

2

Pages :

16-19

Publication date :

2015-03

ISSN :

2214-4269

English keyword(s) :

ALG11-CDG
Burst suppression EEG
Neuronal heterotopia

HAL domain(s) :

Chimie/Chimie théorique et/ou physique

English abstract : [en]

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, ...
Show more >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.Show less >

Language :

Anglais

Administrative institution(s) :

CNRS
Université de Lille

Collections :

• Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576

Research team(s) :

Mécanismes moléculaires de la N-glycosylation et pathologies associées

Submission date :

2020-02-12T15:12:03Z