The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
Por:
Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R and Pérez-Dueñas B
Publicada:
1 jul 2022
Ahead of Print:
1 abr 2022
Resumen:
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.
Filiaciones:
Sánchez-Lijarcio O:
Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain
Yubero-Siles D:
Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain
Leal F:
Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain
Couce ML:
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
González Gutiérrez-Solana L:
Neuropediatrics Unit, Niño Jesús Clinical University Hospital, CIBERER, Madrid, Spain
López-Laso E:
Paediatric Neurology Unit, Department of Paediatrics, University Hospital Reina Sofía, Maimónides Institute of Biomedical Investigation of Cordoba (IMIBIC) and CIBERER, Córdoba, Spain
Garcia-Cazorla A:
Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain
Pias-Peleteiro LD:
Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain
de Azua Brea B:
Pediatric Department, Son Llàtzer Hospital, Mallorca, Spain
Ibáñez-Micó S:
Neuropaediatrics Unit, Department of Pediatrics, Virgen de la Arrixaca University Hospital, Murcia, Spain
Mateo-Martínez G:
Neuropediatrics Unit, Guadalajara Clinical University Hospital, Guadalajara, Spain
Troncoso-Schifferli M:
Child Neurology Service, Clinical Hospital San Borja Arriarán, University of Chile, Santiago, Chile
Witting-Enriquez S:
Child Neurology Service, Clinical Hospital San Borja Arriarán, University of Chile, Santiago, Chile
Ugarte M:
Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain
Artuch-Iriberri R:
Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain
Pérez-Dueñas B:
Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain
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