SLC35A2-related congenital disorder of glycosylation : Defining the phenotype

Show simple item record

dc.contributor University of Helsinki, Medicum en
dc.contributor.author Yates, T. Michael
dc.contributor.author Suri, Mohnish
dc.contributor.author Desurkar, Archana
dc.contributor.author Lesca, Gaetan
dc.contributor.author Wallgren-Pettersson, Carina
dc.contributor.author Hammer, Trine B.
dc.contributor.author Raghavan, Ashok
dc.contributor.author Poulat, Anne-Lise
dc.contributor.author Moller, Rikke S.
dc.contributor.author Thuresson, Ann-Charlotte
dc.contributor.author Balasubramanian, Meena
dc.date.accessioned 2019-12-31T22:55:53Z
dc.date.available 2020-12-31T03:48:46Z
dc.date.issued 2018-11
dc.identifier.citation 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 en
dc.identifier.issn 1090-3798
dc.identifier.other PURE: 121579571
dc.identifier.other PURE UUID: d55fdcd5-e475-4121-8446-4a010801e15b
dc.identifier.other WOS: 000455065100023
dc.identifier.other Scopus: 85052787369
dc.identifier.uri http://hdl.handle.net/10138/308870
dc.description.abstract 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. en
dc.format.extent 8
dc.language.iso eng
dc.relation.ispartof European Journal of Paediatric Neurology
dc.rights en
dc.subject Developmental and epileptic encephalopathy en
dc.subject Congenital disorders of glycosylation en
dc.subject Intellectual disability en
dc.subject SLC35A2 en
dc.subject GENETIC CAUSES en
dc.subject 3112 Neurosciences en
dc.subject 3124 Neurology and psychiatry en
dc.title SLC35A2-related congenital disorder of glycosylation : Defining the phenotype en
dc.type Article
dc.description.version Peer reviewed
dc.identifier.doi https://doi.org/10.1016/j.ejpn.2018.08.002
dc.type.uri info:eu-repo/semantics/other
dc.type.uri info:eu-repo/semantics/publishedVersion
dc.contributor.pbl
dc.contributor.pbl

Files in this item

Total number of downloads: Loading...

Files Size Format View
1_s2.0_S1090379818302708_main.pdf 778.2Kb PDF View/Open

This item appears in the following Collection(s)

Show simple item record