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

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

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

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 language	English
Pages (from-to)	16-19
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	2
DOIs	https://doi.org/10.1016/j.ymgmr.2014.11.006
Publication status	Published - 2015

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title = "ALG11-CDG: Three novel mutations and further characterization of the phenotype",

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 = "Journal Article",

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year = "2015",

doi = "10.1016/j.ymgmr.2014.11.006",

language = "English",

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T2 - Three novel mutations and further characterization of the phenotype

AU - Regal, L

AU - van Hasselt, P M

AU - Foulquier, F

AU - Cuppen, I

AU - Prinsen, Hcmt

AU - Jansen, K

AU - Keldermans, L

AU - De Meirleir, L

AU - Matthijs, G

AU - Jaeken, J

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1016/j.ymgmr.2014.11.006

DO - 10.1016/j.ymgmr.2014.11.006

M3 - Article

C2 - 28649519

SN - 2214-4269

VL - 2

SP - 16

EP - 19

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

ER -

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

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