The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood–brain barrier. This work describes the genetic analysis of 56 patients with clini...
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| Published in | Clinical genetics Vol. 102; no. 1; pp. 40 - 55 |
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| Main Authors | , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Publishing Ltd
01.07.2022
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-9163 1399-0004 1399-0004 |
| DOI | 10.1111/cge.14138 |
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| Abstract | Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood–brain barrier. This work describes the genetic analysis of 56 patients with clinical or biochemical GLUT1DS hallmarks. 55.4% of these patients had a pathogenic variant of SLC2A1, and 23.2% had a variant in one of 13 different genes. No pathogenic variant was identified for the remaining patients. Expression analysis of SLC2A1 indicated a reduction in SLC2A1 mRNA in patients with pathogenic variants of this gene, as well as in one patient with a pathogenic variant in SLC9A6, and in three for whom no candidate variant was identified. Thus, the clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1. |
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| AbstractList | Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier. This work describes the genetic analysis of 56 patients with clinical or biochemical GLUT1DS hallmarks. 55.4% of these patients had a pathogenic variant of SLC2A1, and 23.2% had a variant in one of 13 different genes. No pathogenic variant was identified for the remaining patients. Expression analysis of SLC2A1 indicated a reduction in SLC2A1 mRNA in patients with pathogenic variants of this gene, as well as in one patient with a pathogenic variant in SLC9A6, and in three for whom no candidate variant was identified. Thus, the clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier. This work describes the genetic analysis of 56 patients with clinical or biochemical GLUT1DS hallmarks. 55.4% of these patients had a pathogenic variant of SLC2A1, and 23.2% had a variant in one of 13 different genes. No pathogenic variant was identified for the remaining patients. Expression analysis of SLC2A1 indicated a reduction in SLC2A1 mRNA in patients with pathogenic variants of this gene, as well as in one patient with a pathogenic variant in SLC9A6, and in three for whom no candidate variant was identified. Thus, the clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1. Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1 ) leading to defective glucose transport across the blood–brain barrier. This work describes the genetic analysis of 56 patients with clinical or biochemical GLUT1DS hallmarks. 55.4% of these patients had a pathogenic variant of SLC2A1, and 23.2% had a variant in one of 13 different genes. No pathogenic variant was identified for the remaining patients. Expression analysis of SLC2A1 indicated a reduction in SLC2A1 mRNA in patients with pathogenic variants of this gene, as well as in one patient with a pathogenic variant in SLC9A6 , and in three for whom no candidate variant was identified. Thus, the clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1. Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood–brain barrier. This work describes the genetic analysis of 56 patients with clinical or biochemical GLUT1DS hallmarks. 55.4% of these patients had a pathogenic variant of SLC2A1, and 23.2% had a variant in one of 13 different genes. No pathogenic variant was identified for the remaining patients. Expression analysis of SLC2A1 indicated a reduction in SLC2A1 mRNA in patients with pathogenic variants of this gene, as well as in one patient with a pathogenic variant in SLC9A6, and in three for whom no candidate variant was identified. Thus, the clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1. |
| Author | Pérez, Belén González Gutiérrez‐Solana, Luis Couce, María L. Pías‐Peleteiro, Leticia Yubero, Delia Witting‐Enriquez, Scarlet López‐Laso, Eduardo Azua Brea, Begoña Artuch, Rafael Leal, Fátima Mateo‐Martínez, Gonzalo Ugarte, Magdalena Sánchez‐Lijarcio, Obdulia Troncoso‐Schifferli, Monica García‐Cazorla, Àngels Ibáñez‐Micó, Salvador |
| AuthorAffiliation | 1 Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO) Autonomous University of Madrid, CIBERER, IdiPAZ Madrid Spain 2 Sant Joan de Déu Research Institute CIBERER Barcelona Spain 4 Neuropediatrics Unit Niño Jesús Clinical University Hospital, CIBERER Madrid Spain 3 Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela University of Santiago de Compostela, CIBERER, MetabERN Santiago de Compostela Spain 7 Neuropaediatrics Unit, Department of Pediatrics Virgen de la Arrixaca University Hospital Murcia Spain 6 Pediatric Department Son Llàtzer Hospital Mallorca Spain 5 Paediatric Neurology Unit, Department of Paediatrics University Hospital Reina Sofía, Maimónides Institute of Biomedical Investigation of Cordoba (IMIBIC) and CIBERER Córdoba Spain 8 Neuropediatrics Unit Guadalajara Clinical University Hospital Guadalajara Spain 9 |
| AuthorAffiliation_xml | – name: 5 Paediatric Neurology Unit, Department of Paediatrics University Hospital Reina Sofía, Maimónides Institute of Biomedical Investigation of Cordoba (IMIBIC) and CIBERER Córdoba Spain – name: 7 Neuropaediatrics Unit, Department of Pediatrics Virgen de la Arrixaca University Hospital Murcia Spain – name: 1 Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO) Autonomous University of Madrid, CIBERER, IdiPAZ Madrid Spain – name: 4 Neuropediatrics Unit Niño Jesús Clinical University Hospital, CIBERER Madrid Spain – name: 3 Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela University of Santiago de Compostela, CIBERER, MetabERN Santiago de Compostela Spain – name: 6 Pediatric Department Son Llàtzer Hospital Mallorca Spain – name: 9 Child Neurology Service, Clinical Hospital San Borja Arriarán University of Chile Santiago Chile – name: 2 Sant Joan de Déu Research Institute CIBERER Barcelona Spain – name: 8 Neuropediatrics Unit Guadalajara Clinical University Hospital Guadalajara Spain |
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| Cites_doi | 10.1016/j.ymgme.2017.12.436 10.1111/j.1600-0854.2009.00894.x 10.1101/2020.08.28.271932 10.1093/nar/gky1105 10.1101/mcs.a003392 10.1111/epi.16908 10.1007/s10545-017-0133-4 10.1056/NEJM199109053251006 10.1016/j.neuron.2012.08.019 10.1093/brain/awp336 10.1111/j.1528-1167.2008.01833.x 10.1055/s-0030-1248264 10.1002/epi4.12414 10.1001/jamaneurol.2013.3090 10.1016/j.eplepsyres.2011.02.007 10.1016/j.seizure.2013.07.003 10.1097/WCO.0b013e3283515e4a |
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| Copyright | 2022 The Authors. published by John Wiley & Sons Ltd. 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. 2022. This article is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. |
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| Keywords | SLC2A1 GLUT1 GLUT1DS hypoglycorrhachia |
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| License | Attribution-NonCommercial 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
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| Notes | Rafael Artuch and Belén Pérez are joint senior authors. Funding information Carlos III Institute (ISCIII), European Regional Development Funds (PI19/01155); CIBERER (ERTRLE0I1); Consejería de Educación, Juventud y Deporte, Comunidad de Madrid (B2017/BMD3721); Fundación Isabel Gemio, the Fundación La Caixa (LCF/PR/PR16/11110018) ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Funding information Carlos III Institute (ISCIII), European Regional Development Funds (PI19/01155); CIBERER (ERTRLE0I1); Consejería de Educación, Juventud y Deporte, Comunidad de Madrid (B2017/BMD3721); Fundación Isabel Gemio, the Fundación La Caixa (LCF/PR/PR16/11110018) |
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| References_xml | – year: 2020 article-title: Long‐read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods publication-title: bioRxiv – volume: 62 start-page: 1293 year: 2021 end-page: 1305 article-title: Modeling seizures in the human phenotype ontology according to contemporary ILAE concepts makes big phenotypic data tractable publication-title: Epilepsia – volume: 5 start-page: 354 year: 2020 end-page: 365 article-title: Glut1 deficiency syndrome (Glut1DS): state of the art in 2020 and recommendations of the international Glut1DS study group publication-title: Epilepsia Open – volume: 133 start-page: 655 year: 2010 end-page: 670 article-title: Glucose transporter‐1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder publication-title: Brain – volume: 47 start-page: D1018 year: 2019 end-page: D1027 article-title: Expansion of the human phenotype ontology (HPO) knowledge base and resources publication-title: Nucleic Acids Res – volume: 25 start-page: 173 year: 2012 end-page: 178 article-title: Ketogenic diets: new advances for metabolism‐based therapies publication-title: Curr Opin Neurol – volume: 40 start-page: 207 year: 2009 end-page: 210 article-title: Autosomal recessive inheritance of GLUT1 deficiency syndrome publication-title: Neuropediatrics – volume: 70 start-page: 1440 year: 2013 end-page: 1444 article-title: Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review publication-title: JAMA Neurol – volume: 75 start-page: 762 year: 2012 end-page: 777 article-title: Synaptic energy use and supply publication-title: Neuron – volume: 100 start-page: 272 year: 2012 end-page: 277 article-title: GLUT1 deficiency syndrome in clinical practice publication-title: Epilepsy Res – volume: 325 start-page: 703 year: 1991 end-page: 709 article-title: Defective glucose transport across the blood‐brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay publication-title: N Engl J Med – volume: 49 start-page: 46 issue: suppl 8 year: 2008 end-page: 49 article-title: Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet publication-title: Epilepsia – volume: 10 start-page: 590 year: 2009 end-page: 599 article-title: Discovery of new cargo proteins that enter cells through Clathrin‐independent endocytosis publication-title: Traffic – volume: 41 start-page: 525 year: 2018 end-page: 532 article-title: “Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA‐sequencing publication-title: J Inherit Metab Dis – volume: 123 start-page: 331 year: 2018 end-page: 336 article-title: A frame‐shift deletion in the PURA gene associates with a new clinical finding: hypoglycorrhachia. Is GLUT1 a new PURA target? publication-title: Mol Genet Metab – volume: 22 start-page: 803 year: 2013 end-page: 811 article-title: GLUT1 deficiency syndrome 2013: current state of the art publication-title: Seizure – volume: 4 year: 2018 article-title: Diagnosing rare diseases after the exome publication-title: Cold Spring Harb Mol Case Study – ident: e_1_2_9_12_1 doi: 10.1016/j.ymgme.2017.12.436 – ident: e_1_2_9_13_1 doi: 10.1111/j.1600-0854.2009.00894.x – ident: e_1_2_9_15_1 doi: 10.1101/2020.08.28.271932 – ident: e_1_2_9_10_1 doi: 10.1093/nar/gky1105 – ident: e_1_2_9_16_1 doi: 10.1101/mcs.a003392 – ident: e_1_2_9_17_1 doi: 10.1111/epi.16908 – ident: e_1_2_9_14_1 doi: 10.1007/s10545-017-0133-4 – ident: e_1_2_9_4_1 doi: 10.1056/NEJM199109053251006 – ident: e_1_2_9_18_1 doi: 10.1016/j.neuron.2012.08.019 – ident: e_1_2_9_8_1 doi: 10.1093/brain/awp336 – ident: e_1_2_9_6_1 doi: 10.1111/j.1528-1167.2008.01833.x – ident: e_1_2_9_3_1 doi: 10.1055/s-0030-1248264 – ident: e_1_2_9_5_1 doi: 10.1002/epi4.12414 – ident: e_1_2_9_9_1 doi: 10.1001/jamaneurol.2013.3090 – ident: e_1_2_9_11_1 doi: 10.1016/j.eplepsyres.2011.02.007 – ident: e_1_2_9_2_1 doi: 10.1016/j.seizure.2013.07.003 – ident: e_1_2_9_7_1 doi: 10.1097/WCO.0b013e3283515e4a |
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| SubjectTerms | Blood-brain barrier Genetic analysis Glucose transport Glucose transporter GLUT1 GLUT1DS Haploinsufficiency hypoglycorrhachia Metabolic disorders mRNA Patients Short Report Short Reports SLC2A1 |
| Title | The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1 |
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