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

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 lethal...

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Autores principales: Regal, L., van Hasselt, P.M., Foulquier, F., Cuppen, I., Prinsen, HCMT, Jansen, K., Keldermans, L., De Meirleir, L., Matthijs, G., Jaeken, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471160/
https://www.ncbi.nlm.nih.gov/pubmed/28649519
http://dx.doi.org/10.1016/j.ymgmr.2014.11.006
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author Regal, L.
van Hasselt, P.M.
Foulquier, F.
Cuppen, I.
Prinsen, HCMT
Jansen, K.
Keldermans, L.
De Meirleir, L.
Matthijs, G.
Jaeken, J.
author_facet Regal, L.
van Hasselt, P.M.
Foulquier, F.
Cuppen, I.
Prinsen, HCMT
Jansen, K.
Keldermans, L.
De Meirleir, L.
Matthijs, G.
Jaeken, J.
author_sort Regal, L.
collection PubMed
description 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.
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spelling pubmed-54711602017-06-23 ALG11-CDG: Three novel mutations and further characterization of the phenotype Regal, L. van Hasselt, P.M. Foulquier, F. Cuppen, I. Prinsen, HCMT Jansen, K. Keldermans, L. De Meirleir, L. Matthijs, G. Jaeken, J. Mol Genet Metab Rep Case Report 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. Elsevier 2014-11-25 /pmc/articles/PMC5471160/ /pubmed/28649519 http://dx.doi.org/10.1016/j.ymgmr.2014.11.006 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Case Report
Regal, L.
van Hasselt, P.M.
Foulquier, F.
Cuppen, I.
Prinsen, HCMT
Jansen, K.
Keldermans, L.
De Meirleir, L.
Matthijs, G.
Jaeken, J.
ALG11-CDG: Three novel mutations and further characterization of the phenotype
title ALG11-CDG: Three novel mutations and further characterization of the phenotype
title_full ALG11-CDG: Three novel mutations and further characterization of the phenotype
title_fullStr ALG11-CDG: Three novel mutations and further characterization of the phenotype
title_full_unstemmed ALG11-CDG: Three novel mutations and further characterization of the phenotype
title_short ALG11-CDG: Three novel mutations and further characterization of the phenotype
title_sort alg11-cdg: three novel mutations and further characterization of the phenotype
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471160/
https://www.ncbi.nlm.nih.gov/pubmed/28649519
http://dx.doi.org/10.1016/j.ymgmr.2014.11.006
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