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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a...
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| Published in: | European journal of human genetics : EJHG 2017-06, Vol.25 (6), p.771-774 |
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| Main Authors: | , , , , , , , , , , , , |
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| cites | cdi_FETCH-LOGICAL-c478t-492681c013631251c0b5b8bc1bdd17f87c2072e2cfc3182f3247b7d86981684e3 |
| container_end_page | 774 |
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| container_title | European journal of human genetics : EJHG |
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| creator | Willemsen, Michèl A Vissers, Lisenka Elm Verbeek, Marcel M van Bon, Bregje W Geuer, Sinje Gilissen, Christian Klepper, Joerg Kwint, Michael P Leen, Wilhelmina G Pennings, Maartje Wevers, Ron A Veltman, Joris A Kamsteeg, Erik-Jan |
| description | Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a genetic diagnosis can not be made. Using whole-genome sequencing, we identified a de novo 5'-UTR variant in SLC2A1, generating a novel translation initiation codon, severely compromising SLC2A1 function. This finding expands our understanding of the disease mechanisms underlying GLUT1DS and encourages further in-depth analysis of SLC2A1 non-coding regions in patients without variants in the coding region. |
| doi_str_mv | 10.1038/ejhg.2017.45 |
| format | article |
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The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a genetic diagnosis can not be made. Using whole-genome sequencing, we identified a de novo 5'-UTR variant in SLC2A1, generating a novel translation initiation codon, severely compromising SLC2A1 function. 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| subjects | 5' Untranslated Regions Adolescent Carbohydrate Metabolism, Inborn Errors - diagnosis Carbohydrate Metabolism, Inborn Errors - genetics Cells, Cultured Cerebrospinal fluid Codon, Initiator - genetics Female Genetic screening Genomes Glucose transport Glucose transporter Glucose Transporter Type 1 - genetics Glucose Transporter Type 1 - metabolism Humans Metabolic disorders Monosaccharide Transport Proteins - deficiency Monosaccharide Transport Proteins - genetics Mutation Non-coding RNA Peptide Chain Initiation, Translational Short Report Translation initiation |
| title | Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome |
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