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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)16-19
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume2
DOIs
Publication statusPublished - 1 Jan 2015

Keywords

  • ALG11-CDG
  • Burst suppression EEG
  • Neuronal heterotopia

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