SLC35A2-CDG: Novel variant and review
SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a pr...
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doaj-54434bbf08f84d7e9aff993eb7985c642021-02-13T04:24:52ZengElsevierMolecular Genetics and Metabolism Reports2214-42692021-03-0126100717SLC35A2-CDG: Novel variant and reviewDulce Quelhas0Joana Correia1Jaak Jaeken2Luísa Azevedo3Mónica Lopes-Marques4Anabela Bandeira5Liesbeth Keldermans6Gert Matthijs7Luisa Sturiale8Esmeralda Martins9Unidade de Bioquímica Genética, Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal; Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto, Porto, Portugal; Corresponding author at: Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar do Porto, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto, Porto, PortugalCenter for Metabolic Diseases, KU Leuven, Leuven, Belgiumi3S- Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Population Genetics and Evolution Group, Porto, Portugal; IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal; FCUP-Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugali3S- Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Population Genetics and Evolution Group, Porto, Portugal; IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal; FCUP-Department of Biology, Faculty of Sciences, University of Porto, Porto, PortugalCentro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto, Porto, PortugalDepartment of Human Genetics, KU Leuven, Leuven, BelgiumDepartment of Human Genetics, KU Leuven, Leuven, BelgiumCNR - Institute of Chemistry and Technology of Polymers, Catania, ItalyUnit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal; Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto, Porto, PortugalSLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients.http://www.sciencedirect.com/science/article/pii/S2214426921000112CDGCongenital disorder(s) of glycosylationIGF1PhenotypeSLC35A2Variant |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Dulce Quelhas Joana Correia Jaak Jaeken Luísa Azevedo Mónica Lopes-Marques Anabela Bandeira Liesbeth Keldermans Gert Matthijs Luisa Sturiale Esmeralda Martins |
spellingShingle |
Dulce Quelhas Joana Correia Jaak Jaeken Luísa Azevedo Mónica Lopes-Marques Anabela Bandeira Liesbeth Keldermans Gert Matthijs Luisa Sturiale Esmeralda Martins SLC35A2-CDG: Novel variant and review Molecular Genetics and Metabolism Reports CDG Congenital disorder(s) of glycosylation IGF1 Phenotype SLC35A2 Variant |
author_facet |
Dulce Quelhas Joana Correia Jaak Jaeken Luísa Azevedo Mónica Lopes-Marques Anabela Bandeira Liesbeth Keldermans Gert Matthijs Luisa Sturiale Esmeralda Martins |
author_sort |
Dulce Quelhas |
title |
SLC35A2-CDG: Novel variant and review |
title_short |
SLC35A2-CDG: Novel variant and review |
title_full |
SLC35A2-CDG: Novel variant and review |
title_fullStr |
SLC35A2-CDG: Novel variant and review |
title_full_unstemmed |
SLC35A2-CDG: Novel variant and review |
title_sort |
slc35a2-cdg: novel variant and review |
publisher |
Elsevier |
series |
Molecular Genetics and Metabolism Reports |
issn |
2214-4269 |
publishDate |
2021-03-01 |
description |
SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients. |
topic |
CDG Congenital disorder(s) of glycosylation IGF1 Phenotype SLC35A2 Variant |
url |
http://www.sciencedirect.com/science/article/pii/S2214426921000112 |
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