| Literature DB >> 28378819 |
Michèl A Willemsen1, Lisenka Elm Vissers2, Marcel M Verbeek3,4, Bregje W van Bon2, Sinje Geuer2, Christian Gilissen2, Joerg Klepper5, Michael P Kwint2, Wilhelmina G Leen6, Maartje Pennings2, Ron A Wevers4, Joris A Veltman2, Erik-Jan Kamsteeg2.
Abstract
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.Entities:
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Year: 2017 PMID： 28378819 PMCID： PMC5477372 DOI： 10.1038/ejhg.2017.45
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246