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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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  • T Michael Yates
  • Mohnish Suri
  • Archana Desurkar
  • Gaetan Lesca
  • Carina Wallgren-Pettersson
  • Trine B Hammer
  • Ashok Raghavan
  • Anne-Lise Poulat
  • Rikke S Møller
  • Ann-Charlotte Thuresson
  • Meena Balasubramanian
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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.

OriginalsprogEngelsk
TidsskriftEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Vol/bind22
Udgave nummer6
Sider (fra-til)1095-1102
Antal sider8
ISSN1090-3798
DOI
StatusUdgivet - nov. 2018

ID: 56216619