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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...
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325084/ https://www.ncbi.nlm.nih.gov/pubmed/35388452 http://dx.doi.org/10.1111/cge.14138 |
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| author | Sánchez‐Lijarcio, Obdulia Yubero, Delia Leal, Fátima Couce, María L. González Gutiérrez‐Solana, Luis López‐Laso, Eduardo García‐Cazorla, Àngels Pías‐Peleteiro, Leticia de Azua Brea, Begoña Ibáñez‐Micó, Salvador Mateo‐Martínez, Gonzalo Troncoso‐Schifferli, Monica Witting‐Enriquez, Scarlet Ugarte, Magdalena Artuch, Rafael Pérez, Belén |
| author_facet | Sánchez‐Lijarcio, Obdulia Yubero, Delia Leal, Fátima Couce, María L. González Gutiérrez‐Solana, Luis López‐Laso, Eduardo García‐Cazorla, Àngels Pías‐Peleteiro, Leticia de Azua Brea, Begoña Ibáñez‐Micó, Salvador Mateo‐Martínez, Gonzalo Troncoso‐Schifferli, Monica Witting‐Enriquez, Scarlet Ugarte, Magdalena Artuch, Rafael Pérez, Belén |
| author_sort | Sánchez‐Lijarcio, Obdulia |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-9325084 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Blackwell Publishing Ltd |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-93250842022-07-30 The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1 Sánchez‐Lijarcio, Obdulia Yubero, Delia Leal, Fátima Couce, María L. González Gutiérrez‐Solana, Luis López‐Laso, Eduardo García‐Cazorla, Àngels Pías‐Peleteiro, Leticia de Azua Brea, Begoña Ibáñez‐Micó, Salvador Mateo‐Martínez, Gonzalo Troncoso‐Schifferli, Monica Witting‐Enriquez, Scarlet Ugarte, Magdalena Artuch, Rafael Pérez, Belén Clin Genet Short Reports 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. Blackwell Publishing Ltd 2022-04-15 2022-07 /pmc/articles/PMC9325084/ /pubmed/35388452 http://dx.doi.org/10.1111/cge.14138 Text en © 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://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. |
| spellingShingle | Short Reports Sánchez‐Lijarcio, Obdulia Yubero, Delia Leal, Fátima Couce, María L. González Gutiérrez‐Solana, Luis López‐Laso, Eduardo García‐Cazorla, Àngels Pías‐Peleteiro, Leticia de Azua Brea, Begoña Ibáñez‐Micó, Salvador Mateo‐Martínez, Gonzalo Troncoso‐Schifferli, Monica Witting‐Enriquez, Scarlet Ugarte, Magdalena Artuch, Rafael Pérez, Belén The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1 |
| title | The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than
SLC2A1
|
| title_full | The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than
SLC2A1
|
| title_fullStr | The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than
SLC2A1
|
| title_full_unstemmed | The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than
SLC2A1
|
| title_short | The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than
SLC2A1
|
| title_sort | clinical and biochemical hallmarks generally associated with glut1ds may be caused by defects in genes other than
slc2a1 |
| topic | Short Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325084/ https://www.ncbi.nlm.nih.gov/pubmed/35388452 http://dx.doi.org/10.1111/cge.14138 |
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