SLC35A2-related congenital disorder of glycosylation : Defining the phenotype

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http://hdl.handle.net/10138/308870

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Yates , T M , Suri , M , Desurkar , A , Lesca , G , Wallgren-Pettersson , C , Hammer , T B , Raghavan , A , Poulat , A-L , Moller , R S , Thuresson , A-C & Balasubramanian , M 2018 , ' SLC35A2-related congenital disorder of glycosylation : Defining the phenotype ' , European Journal of Paediatric Neurology , vol. 22 , no. 6 , pp. 1095-1102 . https://doi.org/10.1016/j.ejpn.2018.08.002

Titel: SLC35A2-related congenital disorder of glycosylation : Defining the phenotype
Författare: Yates, T. Michael; Suri, Mohnish; Desurkar, Archana; Lesca, Gaetan; Wallgren-Pettersson, Carina; Hammer, Trine B.; Raghavan, Ashok; Poulat, Anne-Lise; Moller, Rikke S.; Thuresson, Ann-Charlotte; Balasubramanian, Meena
Medarbetare: University of Helsinki, Medicum
Datum: 2018-11
Språk: eng
Sidantal: 8
Tillhör serie: European Journal of Paediatric Neurology
ISSN: 1090-3798
Permanenta länken (URI): http://hdl.handle.net/10138/308870
Abstrakt: We aim to further delineate the phenotype associated with pathogenic variants in the SLC35A2 gene, and review all published literature to-date. This gene is located on the X chromosome and encodes a UDP-galactose transporter. Pathogenic variants in SLC35A2 cause a congenital disorder of glycosylation. The condition is rare, and less than twenty patients have been reported to-date. The phenotype is complex and has not been fully defined. Here, we present a series of five patients with de novo pathogenic variants in SLC35A2. The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe intellectual disability, skeletal abnormalities, congenital cardiac disease and cortical visual impairment. Developmental and epileptic encephalopathy with hypsarrhythmia is present in most patients with SLC35A2 variants, and is drug-resistant in the majority of cases. Adrenocorticotropic hormone therapy may achieve partial or complete remission of seizures, but the effect is usually temporary. Isoelectric focusing of transferrins may be normal after infancy, therefore a congenital disorder of glycosylation should still be considered as a diagnosis in the presence of a suggestive phenotype. We also provide evidence that cortical visual impairment is part of the phenotypic spectrum. (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Subject: Developmental and epileptic encephalopathy
Congenital disorders of glycosylation
Intellectual disability
SLC35A2
GENETIC CAUSES
3112 Neurosciences
3124 Neurology and psychiatry
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